V74L (p.Val74Leu) variant of CACNA1A (O00555)
V74L (p.Val74Leu) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V74L (p.Val74Leu) variant details
- p.Val74Leu
- gnomAD rs1190000582
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.17
- MetaLR 0.29
- MetaSVM -0.33
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available