A44G (p.Ala44Gly) variant of CACNA1A (O00555)
A44G (p.Ala44Gly) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A44G (p.Ala44Gly) variant details
- p.Ala44Gly
- gnomAD rs1280455908
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.30
- MetaLR 0.60
- MetaSVM -0.52
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available