Q607R (p.Gln607Arg) variant of GRIA2 (Glutamate receptor 2)
Q607R (p.Gln607Arg) in GRIA2 (Glutamate receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Q607R (p.Gln607Arg) variant details
- p.Gln607Arg
- rs17850674
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.18
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.07
- Population evidence available
- Structural context available
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)
- Cited in: Primary structure and functional expression of the AMPA/kainate receptor subunit 2 from human brain. (PMID 8003671)