A69T (p.Ala69Thr) variant of H6PD (O95479)
A69T (p.Ala69Thr) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A69T (p.Ala69Thr) variant details
- p.Ala69Thr
- gnomAD rs1462197453
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.03
- MetaLR 0.09
- MetaSVM -1.06
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available