P32R (p.Pro32Arg) variant of GRIA1 (Glutamate receptor 1)
P32R (p.Pro32Arg) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P32R (p.Pro32Arg) variant details
- p.Pro32Arg
- ExAC rs760507454
- TOPMed rs760507454
- gnomAD rs760507454
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.33
- MetaLR 0.13
- MetaSVM -0.95
- CADD 23.90
- PolyPhen-2 0.70
- SIFT 0.01
- Most common in the HGDP:MBUTI population (allele frequency 0.29)
- Structural context available