A29S (p.Ala29Ser) variant of CACNA1B (Q00975)
A29S (p.Ala29Ser) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A29S (p.Ala29Ser) variant details
- p.Ala29Ser
- Ensembl rs1956857695
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.23
- MetaLR 0.73
- MetaSVM 0.29
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available