G99R (p.Gly99Arg) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G99R (p.Gly99Arg) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G99R (p.Gly99Arg) variant details
- p.Gly99Arg
- NCI-TCGA TCGA novel
- Ensembl rs1940408492
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.32
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available