A127V (p.Ala127Val) variant of DRD2 (D(2) dopamine receptor)
A127V (p.Ala127Val) in DRD2 (D(2) dopamine receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Dystonic disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A127V (p.Ala127Val) variant details
- p.Ala127Val
- cosmic curated COSV60757
- Ensembl rs1181211984
- Uncertain significance
- Dystonic disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.34
- MetaLR 0.13
- MetaSVM -0.93
- CADD 25.30
- PolyPhen-2 0.43
- SIFT 0.00
- ClinVar: Uncertain significance (Dystonic disorder)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available