R61W (p.Arg61Trp) variant of KRT2 (P35908)
R61W (p.Arg61Trp) in KRT2 (P35908) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. 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.
R61W (p.Arg61Trp) variant details
- p.Arg61Trp
- rs376889647
- ClinGen CA6585941
- ClinVar RCV002183045
- ESP rs376889647
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.29
- CADD 20.80
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available