G14E (p.Gly14Glu) variant of CACNA1A (O00555)
G14E (p.Gly14Glu) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G14E (p.Gly14Glu) variant details
- p.Gly14Glu
- cosmic curated COSV10466
- TOPMed rs1383227916
- gnomAD rs1383227916
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.63
- MetaLR 0.90
- MetaSVM 1.00
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available