A44E (p.Ala44Glu) variant of CACNA1A (O00555)
A44E (p.Ala44Glu) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A44E (p.Ala44Glu) variant details
- p.Ala44Glu
- cosmic curated COSV64205
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.35
- MetaLR 0.76
- MetaSVM 0.00
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available