E100K (p.Glu100Lys) variant of CACNA1S (Q13698)
E100K (p.Glu100Lys) in CACNA1S (Q13698) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in CMYO18. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E100K (p.Glu100Lys) variant details
- p.Glu100Lys
- rs1298520651
- UniProt VAR 088226
- Ensembl rs1298520651
- Uncertain significance
- in CMYO18
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.95
- CADD 28.70
- PolyPhen-2 0.82
- SIFT 0.00
- EBI: Variant of uncertain significance (in CMYO18)
- UniProt: Uncertain significance (in CMYO18)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. (PMID 28012042)
- Cited in: Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family. (PMID 31227654)