T35I (p.Thr35Ile) variant of CACNA1S (Q13698)
T35I (p.Thr35Ile) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Malignant hyperthermia, susceptibility to, 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T35I (p.Thr35Ile) variant details
- p.Thr35Ile
- rs2464701502
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10075
- ClinGen CA344157946
- Uncertain significance
- not specified; Malignant hyperthermia, susceptibility to, 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.26
- CADD 24.80
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Malignant hyperthermia, susceptibility to, 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Nonsyndromic Malignant Hyperthermia Susceptibility. (PMID 20301325)
- Cited in: Consensus guidelines on perioperative management of malignant hyperthermia suspected or susceptible patients from the… (PMID 33131754)