S51P (p.Ser51Pro) variant of KRT16 (Keratin, type I cytoskeletal 16)
S51P (p.Ser51Pro) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S51P (p.Ser51Pro) variant details
- p.Ser51Pro
- ExAC rs766554537
- TOPMed rs766554537
- gnomAD rs766554537
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.42
- CADD 23.20
- PolyPhen-2 0.63
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available