A34T (p.Ala34Thr) variant of CACNB2 (Q08289)
A34T (p.Ala34Thr) in CACNB2 (Q08289) 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, published literature, and structural context.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- gnomAD 10-18140836-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.14
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.18
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available