A59V (p.Ala59Val) variant of GRM5 (P41594)
A59V (p.Ala59Val) in GRM5 (P41594) 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 0.39 / 1. The record also includes population frequency data.
A59V (p.Ala59Val) variant details
- p.Ala59Val
- rs756243558
- ExAC rs756243558
- TOPMed rs756243558
- gnomAD rs756243558
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.19
- MetaLR 0.15
- MetaSVM -0.71
- CADD 23.10
- PolyPhen-2 0.23
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)