V86M (p.Val86Met) variant of CACNA1A (O00555)
V86M (p.Val86Met) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V86M (p.Val86Met) variant details
- p.Val86Met
- cosmic curated COSV64199
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.09
- MetaLR 0.25
- MetaSVM -0.45
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available