I147V (p.Ile147Val) variant of GRM5 (P41594)
I147V (p.Ile147Val) in GRM5 (P41594) 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 0.57 / 1. The record also includes population frequency data.
I147V (p.Ile147Val) variant details
- p.Ile147Val
- ExAC rs776692816
- TOPMed rs776692816
- gnomAD rs776692816
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.54
- MetaLR 0.62
- MetaSVM 0.18
- CADD 23.60
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00096)