G104A (p.Gly104Ala) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G104A (p.Gly104Ala) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G104A (p.Gly104Ala) variant details
- p.Gly104Ala
- gnomAD rs1416806354
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.29
- CADD 1.42
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available