D18V (p.Asp18Val) variant of CACNA1E (Q15878)
D18V (p.Asp18Val) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
D18V (p.Asp18Val) variant details
- p.Asp18Val
- gnomAD rs1379505181
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.50
- CADD 23.70
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.6e-05)
- Structural context available