D36H (p.Asp36His) variant of H6PD (O95479)
D36H (p.Asp36His) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
D36H (p.Asp36His) variant details
- p.Asp36His
- gnomAD 1-9245040-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.91
- MetaLR 0.76
- MetaSVM 0.79
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available