G54V (p.Gly54Val) variant of KRT9 (Keratin, type I cytoskeletal 9)
G54V (p.Gly54Val) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G54V (p.Gly54Val) variant details
- p.Gly54Val
- gnomAD rs1477566105
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.27
- CADD 11.90
- PolyPhen-2 0.11
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available