G54V (p.Gly54Val) variant of KRT17 (Keratin, type I cytoskeletal 17)
G54V (p.Gly54Val) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G54V (p.Gly54Val) variant details
- p.Gly54Val
- 1000Genomes rs570711033
- ExAC rs570711033
- TOPMed rs570711033
- gnomAD rs570711033
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.34
- CADD 12.70
- PolyPhen-2 0.12
- SIFT 0.17
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available