I99N (p.Ile99Asn) variant of CACNA1S (Q13698)
I99N (p.Ile99Asn) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
I99N (p.Ile99Asn) variant details
- p.Ile99Asn
- rs374127575
- ClinGen CA079458
- ClinVar RCV001304568
- ESP rs374127575
- Uncertain significance
- Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility t
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- AlphaMissense 0.76
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.30
- ClinVar: Uncertain significance (Hypokalemic periodic paralysis, type 1; Malignant hyperthermia,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)