A29T (p.Ala29Thr) variant of CACNA1B (Q00975)
A29T (p.Ala29Thr) 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.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- Ensembl rs1956857695
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.24
- MetaLR 0.72
- MetaSVM 0.19
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available