A116S (p.Ala116Ser) variant of CACNA1A (O00555)
A116S (p.Ala116Ser) 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 0.63 / 1. The record also includes population frequency data and structural context.
A116S (p.Ala116Ser) variant details
- p.Ala116Ser
- ExAC rs778725158
- TOPMed rs778725158
- gnomAD rs778725158
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.61
- MetaLR 0.61
- MetaSVM 0.33
- CADD 25.60
- PolyPhen-2 0.74
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available