V53M (p.Val53Met) variant of DRD2 (D(2) dopamine receptor)
V53M (p.Val53Met) in DRD2 (D(2) 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 0.50 / 1. The record also includes population frequency data and structural context.
V53M (p.Val53Met) variant details
- p.Val53Met
- rs200010436
- ClinGen CA228631161
- ClinVar RCV004145250
- TOPMed rs200010436
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.35
- MetaLR 0.30
- MetaSVM -0.43
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available