P128L (p.Pro128Leu) variant of CACNA1A (O00555)
P128L (p.Pro128Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P128L (p.Pro128Leu) variant details
- p.Pro128Leu
- rs779447041
- ClinGen CA9241054
- ClinVar RCV003809869
- ExAC rs779447041
- Uncertain significance
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.61
- MetaLR 0.69
- MetaSVM 0.38
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)