G124V (p.Gly124Val) variant of KRT10 (Keratin, type I cytoskeletal 10)
G124V (p.Gly124Val) in KRT10 (Keratin, type I cytoskeletal 10) 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.
G124V (p.Gly124Val) variant details
- p.Gly124Val
- rs200060640
- ClinGen CA8548304
- ClinVar RCV003548364
- 1000Genomes rs200060640
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.19
- CADD 12.10
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)