L72F (p.Leu72Phe) variant of CACNA1A (O00555)
L72F (p.Leu72Phe) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L72F (p.Leu72Phe) variant details
- p.Leu72Phe
- ExAC rs775562753
- TOPMed rs775562753
- gnomAD rs775562753
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.01
- CADD 18.90
- PolyPhen-2 1.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available