S35G (p.Ser35Gly) variant of KRT6A (Keratin, type II cytoskeletal 6A)
S35G (p.Ser35Gly) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S35G (p.Ser35Gly) variant details
- p.Ser35Gly
- gnomAD rs1387957268
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.36
- CADD 23.10
- PolyPhen-2 0.49
- SIFT 0.02
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available