G21A (p.Gly21Ala) variant of KRT17 (Keratin, type I cytoskeletal 17)
G21A (p.Gly21Ala) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G21A (p.Gly21Ala) variant details
- p.Gly21Ala
- ExAC rs765583417
- TOPMed rs765583417
- gnomAD rs765583417
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.31
- CADD 17.00
- PolyPhen-2 0.01
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available