P23R (p.Pro23Arg) variant of GRIN2A (Q12879)
P23R (p.Pro23Arg) 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 0.29 / 1. The record also includes structural context.
P23R (p.Pro23Arg) variant details
- p.Pro23Arg
- rs969233060
- ClinGen CA394715792
- ClinVar RCV002273490
- TOPMed rs969233060
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- AlphaMissense 0.09
- MetaLR 0.01
- MetaSVM -0.94
- PolyPhen-2 0.00
- SIFT 0.69
- MutPred 0.43
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available