G116S (p.Gly116Ser) variant of KRT1 (Keratin, type II cytoskeletal 1)
G116S (p.Gly116Ser) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G116S (p.Gly116Ser) variant details
- p.Gly116Ser
- gnomAD rs1264699711
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.36
- CADD 2.96
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available