I31L (p.Ile31Leu) variant of KRT16 (Keratin, type I cytoskeletal 16)
I31L (p.Ile31Leu) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
I31L (p.Ile31Leu) variant details
- p.Ile31Leu
- TOPMed rs944892887
- gnomAD rs944892887
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.11
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available