P32Q (p.Pro32Gln) variant of CACNA1B (Q00975)
P32Q (p.Pro32Gln) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P32Q (p.Pro32Gln) variant details
- p.Pro32Gln
- gnomAD 9-137878028-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.33
- MetaLR 0.65
- MetaSVM -0.06
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Ashkenazi Jewish population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available