S7A (p.Ser7Ala) variant of CACNB2 (Q08289)
S7A (p.Ser7Ala) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S7A (p.Ser7Ala) variant details
- p.Ser7Ala
- gnomAD 10-18140755-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.22
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the East Asian population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available