R15G (p.Arg15Gly) variant of KRT5 (Keratin, type II cytoskeletal 5)
R15G (p.Arg15Gly) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R15G (p.Arg15Gly) variant details
- p.Arg15Gly
- rs374322915
- ClinGen CA384931365
- ClinVar RCV002273696
- 1000Genomes rs374322915
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- AlphaMissense 0.16
- MetaLR 0.18
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 0.09
- MutPred 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available