M4T (p.Met4Thr) variant of H6PD (O95479)
M4T (p.Met4Thr) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
M4T (p.Met4Thr) variant details
- p.Met4Thr
- gnomAD 1-9244945-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.58
- MetaLR 0.88
- MetaSVM 1.12
- CADD 24.30
- PolyPhen-2 0.08
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available