P34A (p.Pro34Ala) variant of CACNA1B (Q00975)
P34A (p.Pro34Ala) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P34A (p.Pro34Ala) variant details
- p.Pro34Ala
- 1000Genomes rs769445298
- ExAC rs769445298
- gnomAD rs769445298
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.29
- MetaLR 0.76
- MetaSVM -0.49
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available