H45Q (p.His45Gln) variant of GRM5 (P41594)
H45Q (p.His45Gln) in GRM5 (P41594) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
H45Q (p.His45Gln) variant details
- p.His45Gln
- cosmic curated COSV59614
- ExAC rs768500067
- gnomAD rs768500067
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.68
- MetaLR 0.62
- MetaSVM 0.09
- CADD 22.60
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)