P32L (p.Pro32Leu) variant of CACNA1B (Q00975)
P32L (p.Pro32Leu) in CACNA1B (Q00975) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movement. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- rs777004745
- ClinGen CA5375615
- ClinVar RCV002295368
- ExAC rs777004745
- Uncertain significance
- Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movement
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.35
- MetaLR 0.67
- MetaSVM 0.05
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Neurodevelopmental disorder with seizures and nonepileptic hyper)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available