S17P (p.Ser17Pro) variant of KRT3 (Keratin, type II cytoskeletal 3)
S17P (p.Ser17Pro) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S17P (p.Ser17Pro) variant details
- p.Ser17Pro
- ExAC rs766412120
- TOPMed rs766412120
- gnomAD rs766412120
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.55
- CADD 23.80
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available