R61H (p.Arg61His) variant of DRD2 (D(2) dopamine receptor)
R61H (p.Arg61His) in DRD2 (D(2) dopamine receptor) is a missense change. Clinical records from ClinVar 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 0.54 / 1. The record also includes population frequency data and structural context.
R61H (p.Arg61His) variant details
- p.Arg61His
- rs748462272
- NCI-TCGA Cosmic COSV6075
- cosmic curated COSV60754
- ExAC rs748462272
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.43
- MetaLR 0.25
- MetaSVM -0.63
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available