H34L (p.His34Leu) variant of KRT3 (Keratin, type II cytoskeletal 3)
H34L (p.His34Leu) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
H34L (p.His34Leu) variant details
- p.His34Leu
- gnomAD rs1437272363
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.16
- CADD 1.48
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available