A15T (p.Ala15Thr) variant of CACNB2 (Q08289)
A15T (p.Ala15Thr) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- gnomAD 10-18140779-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.34
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.39
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available