P9L (p.Pro9Leu) variant of CACNA1A (O00555)
P9L (p.Pro9Leu) 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 spec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- rs1487101039
- ClinGen CA404971351
- cosmic curated COSV64196
- ClinVar RCV001988476
- Uncertain significance
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; not spec
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.59
- AlphaMissense 0.67
- MetaLR 0.91
- MetaSVM 0.78
- CADD 26.30
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)