V105I (p.Val105Ile) variant of DRD3 (Dopamine receptor D3)
V105I (p.Val105Ile) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
V105I (p.Val105Ile) variant details
- p.Val105Ile
- ESP rs202231573
- gnomAD rs202231573
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.03
- MetaSVM -1.02
- CADD 14.90
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available