I147T (p.Ile147Thr) variant of GRM5 (P41594)
I147T (p.Ile147Thr) in GRM5 (P41594) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data.
I147T (p.Ile147Thr) variant details
- p.Ile147Thr
- rs1941664701
- ClinGen CA382075790
- ClinVar RCV004006212
- Ensembl rs1941664701
- Uncertain significance
- See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.90
- MetaLR 0.83
- MetaSVM 0.87
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (See cases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)