S35T (p.Ser35Thr) variant of KRT1 (Keratin, type II cytoskeletal 1)
S35T (p.Ser35Thr) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S35T (p.Ser35Thr) variant details
- p.Ser35Thr
- ExAC rs759518011
- gnomAD rs759518011
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.25
- CADD 17.20
- PolyPhen-2 0.24
- SIFT 0.13
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available