V49I (p.Val49Ile) variant of DRD2 (D(2) dopamine receptor)
V49I (p.Val49Ile) in DRD2 (D(2) dopamine receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V49I (p.Val49Ile) variant details
- p.Val49Ile
- cosmic curated COSV60757
- ESP rs139923738
- ExAC rs139923738
- TOPMed rs139923738
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.15
- MetaLR 0.10
- MetaSVM -1.07
- CADD 22.80
- PolyPhen-2 0.76
- SIFT 0.22
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available