G48R (p.Gly48Arg) variant of KRT3 (Keratin, type II cytoskeletal 3)
G48R (p.Gly48Arg) in KRT3 (Keratin, type II cytoskeletal 3) 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 0.34 / 1. The record also includes population frequency data and structural context.
G48R (p.Gly48Arg) variant details
- p.Gly48Arg
- rs370673258
- ESP rs370673258
- ExAC rs370673258
- TOPMed rs370673258
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.38
- CADD 16.00
- PolyPhen-2 0.71
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available