T68R (p.Thr68Arg) variant of H6PD (O95479)
T68R (p.Thr68Arg) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T68R (p.Thr68Arg) variant details
- p.Thr68Arg
- gnomAD 1-9245137-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.13
- MetaLR 0.17
- MetaSVM -0.75
- CADD 22.50
- PolyPhen-2 0.51
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available