A2V (p.Ala2Val) variant of SLC25A20 (O43772)
A2V (p.Ala2Val) in SLC25A20 (O43772) 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.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- TOPMed rs1304635439
- gnomAD rs1304635439
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.34
- MetaLR 0.32
- MetaSVM -0.52
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available