V17A (p.Val17Ala) variant of GRIA1 (Glutamate receptor 1)
V17A (p.Val17Ala) in GRIA1 (Glutamate receptor 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V17A (p.Val17Ala) variant details
- p.Val17Ala
- rs369322935
- cosmic curated COSV53620
- ESP rs369322935
- ExAC rs369322935
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.10
- MetaLR 0.02
- MetaSVM -1.01
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available