G101V (p.Gly101Val) variant of KRT1 (Keratin, type II cytoskeletal 1)
G101V (p.Gly101Val) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G101V (p.Gly101Val) variant details
- p.Gly101Val
- 1000Genomes rs147840212
- ESP rs147840212
- ExAC rs147840212
- TOPMed rs147840212
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.50
- CADD 10.10
- PolyPhen-2 0.34
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available