R65W (p.Arg65Trp) variant of KRT1 (Keratin, type II cytoskeletal 1)
R65W (p.Arg65Trp) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R65W (p.Arg65Trp) variant details
- p.Arg65Trp
- rs116444444
- ClinGen CA6586481
- ClinVar RCV000969075
- ClinVar RCV004754656
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.30
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available