A28V (p.Ala28Val) variant of CACNA1C (Q13936)
A28V (p.Ala28Val) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- gnomAD 12-2115257-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.49
- CADD 22.20
- PolyPhen-2 0.22
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available