P31H (p.Pro31His) variant of GRIN2A (Q12879)
P31H (p.Pro31His) 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 0.26 / 1. The record also includes population frequency data and structural context.
P31H (p.Pro31His) variant details
- p.Pro31His
- Ensembl rs2050239798
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.05
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available