A8V (p.Ala8Val) variant of H6PD (O95479)
A8V (p.Ala8Val) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- cosmic curated COSV66232
- ExAC rs762627876
- TOPMed rs762627876
- gnomAD rs762627876
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.31
- MetaLR 0.87
- MetaSVM 0.37
- CADD 9.66
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available