G97R (p.Gly97Arg) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G97R (p.Gly97Arg) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
G97R (p.Gly97Arg) variant details
- p.Gly97Arg
- rs144860693
- ClinGen CA6580896
- ClinVar RCV001598256
- ClinVar RCV003966241
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.24
- CADD 7.87
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available