G39D (p.Gly39Asp) variant of CACNA1A (O00555)
G39D (p.Gly39Asp) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
G39D (p.Gly39Asp) variant details
- p.Gly39Asp
- rs990248774
- ClinGen CA305562729
- cosmic curated COSV64191
- ClinVar RCV003129188
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- AlphaMissense 0.83
- MetaLR 0.94
- MetaSVM 0.58
- PolyPhen-2 1.00
- SIFT 0.07
- MutPred 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available