P9S (p.Pro9Ser) variant of CACNA1A (O00555)
P9S (p.Pro9Ser) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P9S (p.Pro9Ser) variant details
- p.Pro9Ser
- rs1555797187
- ClinGen CA404971352
- ClinVar RCV002710629
- ClinVar RCV005639431
- Uncertain significance
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.42
- MetaLR 0.87
- MetaSVM 0.52
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 42; Episodic ataxia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- 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)