S57P (p.Ser57Pro) variant of KRT16 (Keratin, type I cytoskeletal 16)
S57P (p.Ser57Pro) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S57P (p.Ser57Pro) variant details
- p.Ser57Pro
- Ensembl rs1908242322
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.38
- CADD 25.80
- PolyPhen-2 0.82
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available