V1806I (p.Val1806Ile) variant of CACNA1A (O00555)
V1806I (p.Val1806Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V1806I (p.Val1806Ile) variant details
- p.Val1806Ile
- rs2512618232
- cosmic curated COSV10080
- ClinGen CA404333768
- ClinVar RCV003804090
- Uncertain significance
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.85
- CADD 26.10
- 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 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)