G98R (p.Gly98Arg) variant of KRT3 (Keratin, type II cytoskeletal 3)
G98R (p.Gly98Arg) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G98R (p.Gly98Arg) variant details
- p.Gly98Arg
- ESP rs370707520
- ExAC rs370707520
- TOPMed rs370707520
- gnomAD rs370707520
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.36
- CADD 16.70
- PolyPhen-2 0.44
- SIFT 0.20
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available