G69R (p.Gly69Arg) variant of KRT5 (Keratin, type II cytoskeletal 5)
G69R (p.Gly69Arg) 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 0.53 / 1. The record also includes structural context.
G69R (p.Gly69Arg) variant details
- p.Gly69Arg
- rs1565594178
- ClinGen CA384930391
- ClinVar RCV003680930
- TOPMed rs1565594178
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- AlphaMissense 0.85
- MetaLR 0.66
- MetaSVM -0.03
- PolyPhen-2 0.99
- SIFT 0.04
- EVE 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available