P23L (p.Pro23Leu) variant of GRIN2A (Q12879)
P23L (p.Pro23Leu) in GRIN2A (Q12879) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- cosmic curated COSV10967
- TOPMed rs969233060
- gnomAD rs969233060
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.01
- AlphaMissense 0.09
- MetaLR 0.01
- MetaSVM -0.94
- CADD 7.08
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available