T30A (p.Thr30Ala) variant of SLC2A1 (P11166)
T30A (p.Thr30Ala) in SLC2A1 (P11166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
T30A (p.Thr30Ala) variant details
- p.Thr30Ala
- gnomAD rs1186274140
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.71
- CADD 23.10
- PolyPhen-2 0.31
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available