L51V (p.Leu51Val) variant of GRIN2A (Q12879)
L51V (p.Leu51Val) 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 0.33 / 1. The record also includes population frequency data and structural context.
L51V (p.Leu51Val) variant details
- p.Leu51Val
- rs771127161
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10040
- ExAC rs771127161
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.14
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.44
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available