S59T (p.Ser59Thr) variant of H6PD (O95479)
S59T (p.Ser59Thr) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S59T (p.Ser59Thr) variant details
- p.Ser59Thr
- gnomAD 1-9245110-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.28
- MetaLR 0.71
- MetaSVM 0.04
- CADD 12.60
- PolyPhen-2 0.01
- SIFT 0.84
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available