G63D (p.Gly63Asp) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G63D (p.Gly63Asp) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G63D (p.Gly63Asp) variant details
- p.Gly63Asp
- ExAC rs748772716
- TOPMed rs748772716
- gnomAD rs748772716
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.45
- CADD 4.34
- PolyPhen-2 0.20
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available