A26V (p.Ala26Val) variant of DRD4 (D(4) dopamine receptor)
A26V (p.Ala26Val) in DRD4 (D(4) dopamine receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- TOPMed rs990101829
- gnomAD rs990101829
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.05
- AlphaMissense 0.09
- MetaLR 0.13
- MetaSVM -1.03
- CADD 10.90
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.0002)
- Structural context available