INHA p.Pro43=
c.129C>T · rs141940534 · VCV743499
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.273%, afr)
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 -0.65 | GERP -3, phastCons 0.001 |
| Overall | ||
| CADD | 5.371 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.273%
African / African-American · 205/74,988 alleles
Filtering AF
0.243%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.231%
Overall
0.0145%
233/1,610,774 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.273% | 366 |
| Admixed American | 0.0252% | 3,964 |
| Remaining individualsnot grpmax-eligible | 0.0193% | 5,193 |
| European (non-Finnish) | 8.49e-05% | 1,178,486 |
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
- INHA
- Protein
- p.Pro43=
- Coding
- c.129C>T
- MANE Select
- NM_002191
- dbSNP
- rs141940534
- Type
- single nucleotide variant
- Location
- chr2:219572503 (GRCh38)
- Gene constraint
- LOEUF 0.686 · pLI 0.42 (gnomAD)
- Structure
- AlphaFold pLDDT 70.80
Similar variants
- INHA p.Ala257Thr Benign/Likely benign ★★ same type
- INHA p.Gly109= Benign ★★ same type
- INHA p.Gly65= Benign/Likely benign ★★ same type
- INHA p.Pro166= Likely benign ★★ same type
- INHA p.Ala144Val Uncertain significance ★ ⚠ same type
- INHA p.Ala207Thr Uncertain significance ★ ⚠ same type
- INHA p.Ala45Thr Uncertain significance ★ ⚠ same type
- INHA p.Ala63Val Uncertain significance ★ ⚠ 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/inha-p-pro43 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown