S17C (p.Ser17Cys) variant of CACNA1A (O00555)
S17C (p.Ser17Cys) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
S17C (p.Ser17Cys) variant details
- p.Ser17Cys
- rs931963287
- ClinGen CA404971303
- ClinVar RCV001244508
- ClinVar RCV001586086
- Uncertain significance
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- AlphaMissense 0.36
- MetaLR 0.73
- MetaSVM 0.15
- PolyPhen-2 0.04
- SIFT 0.01
- MutPred 0.35
- ClinVar: Uncertain significance (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)