T68A (p.Thr68Ala) variant of H6PD (O95479)
T68A (p.Thr68Ala) in H6PD (O95479) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
T68A (p.Thr68Ala) variant details
- p.Thr68Ala
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.09
- MetaLR 0.20
- MetaSVM -0.80
- CADD 18.50
- PolyPhen-2 0.03
- SIFT 0.37
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available