A29T (p.Ala29Thr) variant of DRD2 (D(2) dopamine receptor)
A29T (p.Ala29Thr) 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 0.20 / 1. The record also includes population frequency data and structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- NCI-TCGA Cosmic COSV6075
- cosmic curated COSV60755
- ExAC rs757338225
- TOPMed rs757338225
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -0.99
- CADD 4.33
- PolyPhen-2 0.00
- SIFT 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available