G115R (p.Gly115Arg) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G115R (p.Gly115Arg) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G115R (p.Gly115Arg) variant details
- p.Gly115Arg
- ExAC rs766529656
- gnomAD rs766529656
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.61
- CADD 24.10
- PolyPhen-2 0.95
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available