S12N (p.Ser12Asn) variant of KRT16 (Keratin, type I cytoskeletal 16)
S12N (p.Ser12Asn) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S12N (p.Ser12Asn) variant details
- p.Ser12Asn
- gnomAD rs1391763493
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.17
- CADD 21.20
- PolyPhen-2 0.11
- SIFT 0.15
- Population evidence available
- Structural context available