V62A (p.Val62Ala) variant of GRIA1 (Glutamate receptor 1)
V62A (p.Val62Ala) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
V62A (p.Val62Ala) variant details
- p.Val62Ala
- cosmic curated COSV53597
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.60
- MetaLR 0.61
- MetaSVM 0.31
- CADD 25.70
- PolyPhen-2 0.45
- SIFT 0.50
- Most common in the HGDP:BIAKA population (allele frequency 0.18)
- Structural context available