G61R (p.Gly61Arg) variant of KRT1 (Keratin, type II cytoskeletal 1)
G61R (p.Gly61Arg) in KRT1 (Keratin, type II cytoskeletal 1) 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 0.55 / 1. The record also includes population frequency data and structural context.
G61R (p.Gly61Arg) variant details
- p.Gly61Arg
- NCI-TCGA TCGA novel
- ExAC rs753842056
- gnomAD rs753842056
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.61
- CADD 23.50
- PolyPhen-2 0.92
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available