G13A (p.Gly13Ala) variant of CACNA1A (O00555)
G13A (p.Gly13Ala) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Neurodevelopmental abnormality. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- rs1462714993
- ClinGen CA404971327
- ClinVar RCV001264642
- gnomAD rs1462714993
- Likely benign
- Neurodevelopmental abnormality
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 0.93
- MetaLR 0.93
- MetaSVM 0.66
- PolyPhen-2 0.80
- SIFT 0.00
- MutPred 0.35
- ClinVar: Likely benign (Neurodevelopmental abnormality)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available