A66S (p.Ala66Ser) variant of H6PD (O95479)
A66S (p.Ala66Ser) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
A66S (p.Ala66Ser) variant details
- p.Ala66Ser
- gnomAD rs1231573519
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.79
- MetaLR 0.96
- MetaSVM 1.10
- CADD 24.50
- PolyPhen-2 0.91
- SIFT 0.11
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available