A120V (p.Ala120Val) variant of DRD2 (D(2) dopamine receptor)
A120V (p.Ala120Val) in DRD2 (D(2) dopamine receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
A120V (p.Ala120Val) variant details
- p.Ala120Val
- rs201724929
- NCI-TCGA Cosmic COSV6076
- cosmic curated COSV60762
- TOPMed rs201724929
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.84
- MetaLR 0.68
- MetaSVM 0.56
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available