Y41D (p.Tyr41Asp) variant of H6PD (O95479)
Y41D (p.Tyr41Asp) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
Y41D (p.Tyr41Asp) variant details
- p.Tyr41Asp
- Ensembl rs1641119871
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.89
- MetaLR 0.95
- MetaSVM 1.08
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available