D50E (p.Asp50Glu) variant of GRM5 (P41594)
D50E (p.Asp50Glu) in GRM5 (P41594) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
D50E (p.Asp50Glu) variant details
- p.Asp50Glu
- cosmic curated COSV59595
- ExAC rs749182245
- TOPMed rs749182245
- gnomAD rs749182245
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.47
- MetaLR 0.63
- MetaSVM 0.17
- CADD 20.50
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 3e-05)