R84W (p.Arg84Trp) variant of KRT3 (Keratin, type II cytoskeletal 3)
R84W (p.Arg84Trp) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R84W (p.Arg84Trp) variant details
- p.Arg84Trp
- rs62617086
- ClinGen CA6588263
- ClinVar RCV000969625
- ClinVar RCV003936084
- Benign/Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.27
- CADD 16.60
- PolyPhen-2 0.36
- SIFT 0.02
- ClinVar: Benign/Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available