Y12F (p.Tyr12Phe) variant of CACNA1A (O00555)
Y12F (p.Tyr12Phe) 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 prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Y12F (p.Tyr12Phe) variant details
- p.Tyr12Phe
- rs994265107
- ClinGen CA404971335
- ClinVar RCV001665178
- ClinVar RCV003771814
- Uncertain significance
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.53
- MetaLR 0.91
- MetaSVM 0.53
- CADD 23.70
- PolyPhen-2 0.99
- 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 Middle Eastern population (allele frequency 0.0011)
- 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)