S13C (p.Ser13Cys) variant of KRT16 (Keratin, type I cytoskeletal 16)
S13C (p.Ser13Cys) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S13C (p.Ser13Cys) variant details
- p.Ser13Cys
- Ensembl rs1908250523
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.35
- CADD 23.90
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available