W2G (p.Trp2Gly) variant of H6PD (O95479)
W2G (p.Trp2Gly) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
W2G (p.Trp2Gly) variant details
- p.Trp2Gly
- rs1213763285
- gnomAD 1-9240017-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 17.10
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available