A1092V (p.Ala1092Val) variant of CACNA1S (Q13698)
A1092V (p.Ala1092Val) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
A1092V (p.Ala1092Val) variant details
- p.Ala1092Val
- gnomAD rs1167763807
- Likely pathogenic
- Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.80
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Malignant hyperthermia, susceptibility to, 5; Hypokalemic period)
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available