W2R (p.Trp2Arg) variant of H6PD (O95479)
W2R (p.Trp2Arg) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
W2R (p.Trp2Arg) variant details
- p.Trp2Arg
- gnomAD rs1424973963
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.52
- MetaLR 0.85
- MetaSVM 0.46
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available