P64L (p.Pro64Leu) variant of GRIN2A (Q12879)
P64L (p.Pro64Leu) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
P64L (p.Pro64Leu) variant details
- p.Pro64Leu
- rs2142390004
- ClinGen CA394715545
- ClinVar RCV002254989
- Ensembl rs2142390004
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.57
- AlphaMissense 0.16
- MetaLR 0.68
- MetaSVM 0.40
- CADD 24.30
- PolyPhen-2 0.54
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available