R45H (p.Arg45His) variant of KRT2 (P35908)
R45H (p.Arg45His) in KRT2 (P35908) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; Ichthyosis bullosa of Siemens. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R45H (p.Arg45His) variant details
- p.Arg45His
- rs149447253
- ClinGen CA6585960
- ClinVar RCV000372292
- ClinVar RCV001494821
- Likely benign
- not provided; Ichthyosis bullosa of Siemens
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.29
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Likely benign (not provided; Ichthyosis bullosa of Siemens)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available