S27G (p.Ser27Gly) variant of CACNA1A (O00555)
S27G (p.Ser27Gly) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Episodic ataxia type 2; Developmental and epileptic enc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S27G (p.Ser27Gly) variant details
- p.Ser27Gly
- rs1230511962
- ClinGen CA404971252
- ClinVar RCV003787642
- ClinVar RCV006276408
- Uncertain significance
- Inborn genetic diseases; Episodic ataxia type 2; Developmental and epileptic enc
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.27
- MetaLR 0.62
- MetaSVM -0.24
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases; Episodic ataxia type 2; Developmental a)
- 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)