S32F (p.Ser32Phe) variant of KRT16 (Keratin, type I cytoskeletal 16)
S32F (p.Ser32Phe) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S32F (p.Ser32Phe) variant details
- p.Ser32Phe
- ExAC rs755292687
- TOPMed rs755292687
- gnomAD rs755292687
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.32
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available