R45C (p.Arg45Cys) variant of KRT2 (P35908)
R45C (p.Arg45Cys) in KRT2 (P35908) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Ichthyosis bullosa of Siemens. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R45C (p.Arg45Cys) variant details
- p.Arg45Cys
- rs202186833
- ClinGen CA6585961
- ClinVar RCV000280171
- ClinVar RCV005090451
- Benign/Likely benign
- not provided; Ichthyosis bullosa of Siemens
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.56
- CADD 24.50
- PolyPhen-2 0.68
- SIFT 0.02
- ClinVar: Benign/Likely benign (not provided; Ichthyosis bullosa of Siemens)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available