L117I (p.Leu117Ile) variant of KRT5 (Keratin, type II cytoskeletal 5)
L117I (p.Leu117Ile) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L117I (p.Leu117Ile) variant details
- p.Leu117Ile
- TOPMed rs1219197486
- gnomAD rs1219197486
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.12
- CADD 13.60
- PolyPhen-2 0.04
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available