R3Q (p.Arg3Gln) variant of KRT1 (Keratin, type II cytoskeletal 1)
R3Q (p.Arg3Gln) 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 0.21 / 1. The record also includes population frequency data and structural context.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- rs775323304
- NCI-TCGA Cosmic COSV5286
- ExAC rs775323304
- TOPMed rs775323304
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.11
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available