R20W (p.Arg20Trp) variant of KRT2 (P35908)
R20W (p.Arg20Trp) in KRT2 (P35908) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; Ichthyosis bullosa of Siemens. 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.
R20W (p.Arg20Trp) variant details
- p.Arg20Trp
- rs141817495
- ClinGen CA6585981
- ClinVar RCV000337694
- ClinVar RCV000881424
- Benign
- not provided; Ichthyosis bullosa of Siemens
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.38
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Benign (not provided; Ichthyosis bullosa of Siemens)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available