S76N (p.Ser76Asn) variant of KRT16 (Keratin, type I cytoskeletal 16)
S76N (p.Ser76Asn) 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.
S76N (p.Ser76Asn) variant details
- p.Ser76Asn
- ESP rs374118704
- TOPMed rs374118704
- gnomAD rs374118704
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.28
- CADD 18.30
- PolyPhen-2 0.38
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available