V7M (p.Val7Met) variant of H6PD (O95479)
V7M (p.Val7Met) in H6PD (O95479) 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.
V7M (p.Val7Met) variant details
- p.Val7Met
- TOPMed rs1641114916
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.23
- MetaLR 0.84
- MetaSVM 0.33
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available