I6T (p.Ile6Thr) variant of H6PD (O95479)
I6T (p.Ile6Thr) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I6T (p.Ile6Thr) variant details
- p.Ile6Thr
- ESP rs75652807
- ExAC rs75652807
- TOPMed rs75652807
- gnomAD rs75652807
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.17
- MetaLR 0.61
- MetaSVM 0.09
- CADD 0.20
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available