I113V (p.Ile113Val) variant of CACNA1A (O00555)
I113V (p.Ile113Val) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Developmental and epileptic encephalopathy, 42; Episodic ataxia ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
I113V (p.Ile113Val) variant details
- p.Ile113Val
- rs746955115
- ClinGen CA9241061
- ClinVar RCV001308789
- ClinVar RCV001773618
- Uncertain significance
- not provided; Developmental and epileptic encephalopathy, 42; Episodic ataxia ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.16
- MetaLR 0.06
- MetaSVM -1.12
- CADD 23.80
- PolyPhen-2 0.25
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Developmental and epileptic encephalopathy, 42; Ep)
- 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)