A16T (p.Ala16Thr) variant of CACNB2 (Q08289)
A16T (p.Ala16Thr) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- gnomAD 10-18140782-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.22
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available