V39A (p.Val39Ala) variant of SLC5A2 (Sodium/glucose cotransporter 2)
V39A (p.Val39Ala) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
V39A (p.Val39Ala) variant details
- p.Val39Ala
- 1000Genomes rs535067122
- ExAC rs535067122
- TOPMed rs535067122
- gnomAD rs535067122
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.82
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available