V44I (p.Val44Ile) variant of DRD3 (Dopamine receptor D3)
V44I (p.Val44Ile) in DRD3 (Dopamine receptor D3) 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 0.16 / 1. The record also includes population frequency data and structural context.
V44I (p.Val44Ile) variant details
- p.Val44Ile
- rs777983208
- NCI-TCGA Cosmic COSV5568
- cosmic curated COSV55680
- ExAC rs777983208
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.06
- ESM-1b 1.00
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.09
- CADD 0.81
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available