F79Y (p.Phe79Tyr) variant of CACNA1A (O00555)
F79Y (p.Phe79Tyr) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
F79Y (p.Phe79Tyr) variant details
- p.Phe79Tyr
- gnomAD rs1982990307
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.41
- MetaLR 0.37
- MetaSVM -0.32
- CADD 31.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available