G95V (p.Gly95Val) variant of KRT1 (Keratin, type II cytoskeletal 1)
G95V (p.Gly95Val) 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 0.39 / 1. The record also includes population frequency data and structural context.
G95V (p.Gly95Val) variant details
- p.Gly95Val
- rs754553875
- ClinGen CA384976324
- ClinVar RCV001889114
- ExAC rs754553875
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.49
- CADD 12.60
- PolyPhen-2 0.14
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available