I95V (p.Ile95Val) variant of CACNA1S (Q13698)
I95V (p.Ile95Val) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Malignant hyperthermia, susceptibility to, 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I95V (p.Ile95Val) variant details
- p.Ile95Val
- rs1558082384
- ClinGen CA344145849
- ClinVar RCV004016220
- Ensembl rs1558082384
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.39
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Uncertain significance (Malignant hyperthermia, susceptibility to, 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)