R38H (p.Arg38His) variant of KRT1 (Keratin, type II cytoskeletal 1)
R38H (p.Arg38His) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Epidermolytic ichthyosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R38H (p.Arg38His) variant details
- p.Arg38His
- rs34787940
- ClinGen CA6586497
- ClinVar RCV000282510
- ClinVar RCV000318815
- Benign/Likely benign
- not specified; not provided; Epidermolytic ichthyosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.09
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Benign/Likely benign (not specified; not provided; Epidermolytic ichthyosis)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available