G105V (p.Gly105Val) variant of KRT1 (Keratin, type II cytoskeletal 1)
G105V (p.Gly105Val) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G105V (p.Gly105Val) variant details
- p.Gly105Val
- rs146169155
- ClinGen CA6586462
- ClinVar RCV002962846
- 1000Genomes rs146169155
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.32
- CADD 16.40
- PolyPhen-2 0.52
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available