G103R (p.Gly103Arg) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G103R (p.Gly103Arg) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G103R (p.Gly103Arg) variant details
- p.Gly103Arg
- ExAC rs778306714
- TOPMed rs778306714
- gnomAD rs778306714
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.37
- CADD 19.80
- PolyPhen-2 0.75
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available