A38V (p.Ala38Val) variant of DRD3 (Dopamine receptor D3)
A38V (p.Ala38Val) in DRD3 (Dopamine receptor D3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- cosmic curated COSV55681
- 1000Genomes rs202132481
- ExAC rs202132481
- gnomAD rs202132481
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.05
- MetaSVM -1.04
- CADD 5.48
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available