S28P (p.Ser28Pro) variant of KRT16 (Keratin, type I cytoskeletal 16)
S28P (p.Ser28Pro) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S28P (p.Ser28Pro) variant details
- p.Ser28Pro
- ExAC rs200236413
- gnomAD rs200236413
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.41
- CADD 23.90
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available