G75S (p.Gly75Ser) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G75S (p.Gly75Ser) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
G75S (p.Gly75Ser) variant details
- p.Gly75Ser
- TOPMed rs1388503469
- gnomAD rs1388503469
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.05
- CADD 16.70
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available