G98W (p.Gly98Trp) variant of KRT3 (Keratin, type II cytoskeletal 3)
G98W (p.Gly98Trp) 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 0.49 / 1. The record also includes population frequency data and structural context.
G98W (p.Gly98Trp) variant details
- p.Gly98Trp
- ESP rs370707520
- ExAC rs370707520
- TOPMed rs370707520
- gnomAD rs370707520
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.45
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available