M77T (p.Met77Thr) variant of H6PD (O95479)
M77T (p.Met77Thr) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
M77T (p.Met77Thr) variant details
- p.Met77Thr
- TOPMed rs1641128093
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.46
- MetaLR 0.86
- MetaSVM 0.87
- CADD 23.40
- PolyPhen-2 0.17
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available