A10V (p.Ala10Val) variant of CACNA1A (O00555)
A10V (p.Ala10Val) 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; Inborn g. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- rs952757731
- ClinGen CA16620803
- ClinVar RCV000481875
- ClinVar RCV000697164
- Uncertain significance
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; Inborn g
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.25
- MetaLR 0.70
- MetaSVM 0.03
- CADD 23.40
- PolyPhen-2 0.57
- SIFT 0.00
- 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 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)