F16S (p.Phe16Ser) variant of KRT3 (Keratin, type II cytoskeletal 3)
F16S (p.Phe16Ser) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
F16S (p.Phe16Ser) variant details
- p.Phe16Ser
- ExAC rs753904849
- gnomAD rs753904849
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.40
- CADD 21.10
- PolyPhen-2 0.06
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available