KRT83 p.Glu110=
c.330G>A · VCV4777155
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0011%, sas)
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 0.87, phastCons 0.014 |
| Overall | ||
| CADD | 11.53 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0011%
South Asian · 1/90,930 alleles
Overall
6.2e-05%
1/1,613,470 alleles · very rare
exomes 1/1,461,198 · genomes 0/152,272 · joint denominator
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
- KRT83
- Protein
- p.Glu110=
- Coding
- c.330G>A
- MANE Select
- NM_002282
- Type
- single nucleotide variant
- Location
- chr12:52321006 (GRCh38)
- Gene constraint
- LOEUF 1.226 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 74.81
- Residue 110
- the 'head' region
Similar variants
- KRT83 p.Glu407Lys Likely pathogenic ★★ same type
- KRT83 p.Arg130Cys Uncertain significance ★★ ⚠ same type
- KRT83 p.Arg168Trp Uncertain significance ★★ ⚠ same type
- KRT83 p.Arg272Gln Uncertain significance ★★ ⚠ same type
- KRT83 p.Arg272Trp Uncertain significance ★★ ⚠ same type
- KRT83 p.Arg293His Uncertain significance ★★ ⚠ same type
- KRT83 p.Arg321Cys Uncertain significance ★★ ⚠ same type
- KRT83 p.Arg321His 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/krt83-p-glu110 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown