Y12C (p.Tyr12Cys) variant of CACNA1A (O00555)
Y12C (p.Tyr12Cys) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Y12C (p.Tyr12Cys) variant details
- p.Tyr12Cys
- rs994265107
- ClinGen CA305562806
- ClinVar RCV001229380
- ClinVar RCV003145434
- Uncertain significance
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; not spec
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.56
- MetaLR 0.92
- MetaSVM 0.53
- CADD 27.20
- 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 Non-Finnish European population (allele frequency 5e-05)
- 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)