S66G (p.Ser66Gly) variant of KRT1 (Keratin, type II cytoskeletal 1)
S66G (p.Ser66Gly) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S66G (p.Ser66Gly) variant details
- p.Ser66Gly
- gnomAD rs1941565075
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.43
- CADD 23.60
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available