F60V (p.Phe60Val) variant of H6PD (O95479)
F60V (p.Phe60Val) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
F60V (p.Phe60Val) variant details
- p.Phe60Val
- gnomAD 1-9245112-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.81
- MetaLR 0.94
- MetaSVM 0.98
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available