P202L (p.Pro202Leu) variant of CACNA1A (O00555)
P202L (p.Pro202Leu) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Episodic ataxia type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P202L (p.Pro202Leu) variant details
- p.Pro202Leu
- rs2144559262
- ClinGen CA404350845
- cosmic curated COSV64192
- ClinVar RCV001575419
- Pathogenic/Likely pathogenic
- not provided; Episodic ataxia type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.88
- MetaLR 0.95
- MetaSVM 1.09
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Episodic ataxia type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)