P32S (p.Pro32Ser) variant of CACNA1B (Q00975)
P32S (p.Pro32Ser) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P32S (p.Pro32Ser) variant details
- p.Pro32Ser
- gnomAD rs1344345897
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.31
- MetaLR 0.56
- MetaSVM -0.53
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the East Asian population (allele frequency 4.1e-05)
- Structural context available