R86H (p.Arg86His) variant of KRT1 (Keratin, type II cytoskeletal 1)
R86H (p.Arg86His) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Epidermolytic ichthyosis; Diffuse nonepidermolytic palmoplantar ke. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R86H (p.Arg86His) variant details
- p.Arg86His
- rs886049637
- ClinGen CA10641945
- ClinVar RCV000331807
- ClinVar RCV000386357
- Uncertain significance
- not provided; Epidermolytic ichthyosis; Diffuse nonepidermolytic palmoplantar ke
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.14
- AlphaMissense 0.09
- MetaLR 0.43
- MetaSVM -0.50
- CADD 1.32
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided; Epidermolytic ichthyosis; Diffuse nonepidermolytic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available