P32R (p.Pro32Arg) variant of CACNA1B (Q00975)
P32R (p.Pro32Arg) in CACNA1B (Q00975) 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 0.43 / 1. The record also includes population frequency data and structural context.
P32R (p.Pro32Arg) variant details
- p.Pro32Arg
- ExAC rs777004745
- TOPMed rs777004745
- gnomAD rs777004745
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.33
- MetaLR 0.67
- MetaSVM 0.04
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available