R179P (p.Arg179Pro) variant of KRT1 (Keratin, type II cytoskeletal 1)
R179P (p.Arg179Pro) 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 Annular epidermolytic ichthyosis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
R179P (p.Arg179Pro) variant details
- p.Arg179Pro
- rs59044845
- ClinGen CA217451
- NCI-TCGA Cosmic COSV5286
- ClinVar RCV000057087
- Uncertain significance
- Annular epidermolytic ichthyosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- AlphaMissense 0.95
- MetaLR 0.68
- MetaSVM -0.00
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available