A2V (p.Ala2Val) variant of SLC18A2 (Q05940)
A2V (p.Ala2Val) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- 1000Genomes rs554627946
- ExAC rs554627946
- TOPMed rs554627946
- gnomAD rs554627946
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 28.40
- PolyPhen-2 0.57
- SIFT 0.00
- Most common in the 1KG:CDX population (allele frequency 0.011)
- Structural context available