T73M (p.Thr73Met) variant of CACNA1A (O00555)
T73M (p.Thr73Met) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
T73M (p.Thr73Met) variant details
- p.Thr73Met
- gnomAD rs1472719188
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.44
- MetaLR 0.38
- MetaSVM -0.10
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available