S51C (p.Ser51Cys) variant of KRT16 (Keratin, type I cytoskeletal 16)
S51C (p.Ser51Cys) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S51C (p.Ser51Cys) variant details
- p.Ser51Cys
- ESP rs372013961
- ExAC rs372013961
- TOPMed rs372013961
- gnomAD rs372013961
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.25
- CADD 23.90
- PolyPhen-2 0.78
- SIFT 0.06
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available