A25V (p.Ala25Val) variant of GRIN2A (Q12879)
A25V (p.Ala25Val) in GRIN2A (Q12879) 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 0.22 / 1. The record also includes population frequency data and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- rs542256226
- NCI-TCGA Cosmic COSV5805
- cosmic curated COSV58053
- 1000Genomes rs542256226
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.03
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available