A29V (p.Ala29Val) variant of SLC18A2 (Q05940)
A29V (p.Ala29Val) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- cosmic curated COSV53690
- ExAC rs755098533
- TOPMed rs755098533
- gnomAD rs755098533
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- CADD 29.30
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available