P11A (p.Pro11Ala) variant of CACNB2 (Q08289)
P11A (p.Pro11Ala) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P11A (p.Pro11Ala) variant details
- p.Pro11Ala
- gnomAD 10-18140767-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.15
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 0.96
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available