L65V (p.Leu65Val) variant of GRIN2A (Q12879)
L65V (p.Leu65Val) in GRIN2A (Q12879) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
L65V (p.Leu65Val) variant details
- p.Leu65Val
- ExAC rs753806713
- TOPMed rs753806713
- gnomAD rs753806713
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.17
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.21
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available