R34W (p.Arg34Trp) variant of KRT2 (P35908)
R34W (p.Arg34Trp) 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 0.39 / 1. The record also includes population frequency data and structural context.
R34W (p.Arg34Trp) variant details
- p.Arg34Trp
- rs35460418
- ClinGen CA6585969
- ClinVar RCV000959926
- ClinVar RCV001111993
- Benign
- not provided; Ichthyosis bullosa of Siemens
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.41
- CADD 22.00
- 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 0.00031)
- Structural context available