A17V (p.Ala17Val) variant of DRD3 (Dopamine receptor D3)
A17V (p.Ala17Val) in DRD3 (Dopamine receptor D3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- cosmic curated COSV55679
- ExAC rs781522239
- gnomAD rs781522239
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.17
- MetaSVM -0.99
- CADD 5.51
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available