P42S (p.Pro42Ser) variant of CACNA1A (O00555)
P42S (p.Pro42Ser) 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 0.69 / 1. The record also includes published literature and structural context.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- rs2145192584
- ClinGen CA404971161
- ClinVar RCV002260779
- ClinVar RCV003147744
- Uncertain significance
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 0.34
- MetaLR 0.85
- MetaSVM 0.40
- PolyPhen-2 1.00
- SIFT 0.27
- MutPred 0.18
- 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)