N85S (p.Asn85Ser) variant of CACNA1A (O00555)
N85S (p.Asn85Ser) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
N85S (p.Asn85Ser) variant details
- p.Asn85Ser
- rs746902081
- ClinGen CA404970867
- ClinVar RCV001063128
- ExAC rs746902081
- Likely benign
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.59
- MetaLR 0.54
- MetaSVM 0.13
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Likely benign (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)