I95T (p.Ile95Thr) variant of CACNA1S (Q13698)
I95T (p.Ile95Thr) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
I95T (p.Ile95Thr) variant details
- p.Ile95Thr
- rs550479246
- ClinGen CA079319
- ClinVar RCV001957912
- ClinVar RCV005006273
- Conflicting interpretations
- not provided; Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.40
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Malignant hyperthermia, susceptibility to, 5; Hypo)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Hypokalemic Periodic Paralysis. (PMID 20301512)