V111I (p.Val111Ile) variant of DRD2 (D(2) dopamine receptor)
V111I (p.Val111Ile) 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 0.25 / 1. The record also includes population frequency data and structural context.
V111I (p.Val111Ile) variant details
- p.Val111Ile
- rs745749347
- ExAC rs745749347
- gnomAD rs745749347
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.11
- MetaLR 0.13
- MetaSVM -1.07
- CADD 23.00
- PolyPhen-2 0.65
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available