I8V (p.Ile8Val) variant of KRT6A (Keratin, type II cytoskeletal 6A)
I8V (p.Ile8Val) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
I8V (p.Ile8Val) variant details
- p.Ile8Val
- ESP rs372264347
- TOPMed rs372264347
- gnomAD rs372264347
- Missense
- Variant Prioritization Score for Impact Estimate 0.0702
- REVEL 0.05
- CADD 3.70
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available