G125D (p.Gly125Asp) variant of KRT1 (Keratin, type II cytoskeletal 1)
G125D (p.Gly125Asp) 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 Epidermolytic ichthyosis; Diffuse nonepidermolytic palmoplantar keratoderma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G125D (p.Gly125Asp) variant details
- p.Gly125Asp
- rs886049636
- ClinGen CA10633227
- ClinVar RCV000270471
- ClinVar RCV000325503
- Uncertain significance
- Epidermolytic ichthyosis; Diffuse nonepidermolytic palmoplantar keratoderma
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.60
- CADD 23.10
- PolyPhen-2 0.97
- SIFT 0.05
- ClinVar: Uncertain significance (Epidermolytic ichthyosis; Diffuse nonepidermolytic palmoplantar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available