S80G (p.Ser80Gly) variant of KRT6B (Keratin, type II cytoskeletal 6B)
S80G (p.Ser80Gly) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
S80G (p.Ser80Gly) variant details
- p.Ser80Gly
- gnomAD rs1940409875
- Missense
- Variant Prioritization Score for Impact Estimate 0.0688
- REVEL 0.06
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available