A37P (p.Ala37Pro) variant of CACNB2 (Q08289)
A37P (p.Ala37Pro) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A37P (p.Ala37Pro) variant details
- p.Ala37Pro
- gnomAD 10-18140845-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.33
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available