W2C (p.Trp2Cys) variant of H6PD (O95479)
W2C (p.Trp2Cys) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
W2C (p.Trp2Cys) variant details
- p.Trp2Cys
- gnomAD 1-9244940-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.45
- MetaLR 0.88
- MetaSVM 0.73
- CADD 29.10
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available