G34V (p.Gly34Val) variant of KRT17 (Keratin, type I cytoskeletal 17)
G34V (p.Gly34Val) 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 0.34 / 1. The record also includes population frequency data and structural context.
G34V (p.Gly34Val) variant details
- p.Gly34Val
- 1000Genomes rs368662815
- ExAC rs368662815
- gnomAD rs368662815
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.22
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available