L117F (p.Leu117Phe) variant of KRT5 (Keratin, type II cytoskeletal 5)
L117F (p.Leu117Phe) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L117F (p.Leu117Phe) variant details
- p.Leu117Phe
- TOPMed rs1219197486
- gnomAD rs1219197486
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.14
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.70
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available