R30T (p.Arg30Thr) variant of GLA (Alpha-galactosidase A)
R30T (p.Arg30Thr) in GLA (Alpha-galactosidase A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R30T (p.Arg30Thr) variant details
- p.Arg30Thr
- ExAC rs782079853
- gnomAD rs782079853
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.20
- MetaLR 0.98
- MetaSVM 2.11
- CADD 5.77
- PolyPhen-2 0.00
- SIFT 0.63
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available