I31F (p.Ile31Phe) variant of KRT14 (Keratin, type I cytoskeletal 14)
I31F (p.Ile31Phe) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
I31F (p.Ile31Phe) variant details
- p.Ile31Phe
- ExAC rs750673779
- gnomAD rs750673779
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.13
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available