V7A (p.Val7Ala) variant of H6PD (O95479)
V7A (p.Val7Ala) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V7A (p.Val7Ala) variant details
- p.Val7Ala
- Ensembl rs1641115004
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.25
- MetaLR 0.73
- MetaSVM -0.01
- CADD 5.21
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available