I95L (p.Ile95Leu) variant of KRT8 (Keratin, type II cytoskeletal 8)
I95L (p.Ile95Leu) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
I95L (p.Ile95Leu) variant details
- p.Ile95Leu
- ExAC rs758437742
- TOPMed rs758437742
- gnomAD rs758437742
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 25.20
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available