LRMDA p.Ala159=
c.477G>A · rs368355372 · VCV721937
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.519%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -3.7 | GERP -5.3 |
| Overall | ||
| CADD | 0.654 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.519%
East Asian · 233/44,878 alleles
Filtering AF
0.464%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.443%
Overall
0.0254%
410/1,614,146 alleles · rare
exomes 378/1,461,842 · genomes 32/152,304 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.519% | 193 |
| Admixed American | 0.0367% | 2,728 |
| Remaining individualsnot grpmax-eligible | 0.0304% | 3,290 |
| South Asian | 0.0132% | 7,589 |
| European (non-Finnish) | 0.0105% | 9,516 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- LRMDA
- Protein
- p.Ala159=
- Coding
- c.477G>A
- MANE Select
- NM_001305581
- dbSNP
- rs368355372
- Type
- single nucleotide variant
- Location
- chr10:76058744 (GRCh38)
- Gene constraint
- LOEUF 0.958 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.40
Similar variants
- LRMDA p.Arg184Cys Uncertain significance ★★ ⚠ same type
- LRMDA p.Arg207His Uncertain significance ★★ ⚠ same type
- LRMDA p.Met166Thr Uncertain significance ★★ ⚠ same type
- LRMDA p.Tyr129Cys Uncertain significance ★★ ⚠ same type
- LRMDA c.132-253009C>T Benign/Likely benign ★★ same type
- LRMDA c.398+31A>C Benign ★★ same type
- LRMDA c.516+53C>T Benign ★★ same type
- LRMDA c.601+18T>G Likely benign ★★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/lrmda-p-ala159 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown