S36G (p.Ser36Gly) variant of CACNA1A (O00555)
S36G (p.Ser36Gly) 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 0.30 / 1. The record also includes population frequency data and structural context.
S36G (p.Ser36Gly) variant details
- p.Ser36Gly
- rs2513709713
- ClinGen CA404971200
- ClinVar RCV003329581
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.25
- MetaLR 0.60
- MetaSVM -0.20
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available