G88R (p.Gly88Arg) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G88R (p.Gly88Arg) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of KRT6B-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G88R (p.Gly88Arg) variant details
- p.Gly88Arg
- rs61914500
- ClinGen CA6580899
- ClinVar RCV003979749
- ExAC rs61914500
- Benign
- KRT6B-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.52
- CADD 22.90
- PolyPhen-2 0.16
- SIFT 0.05
- ClinVar: Benign (KRT6B-related disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available