G85D (p.Gly85Asp) variant of CACNA1S (Q13698)
G85D (p.Gly85Asp) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign 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 0.59 / 1. The record also includes population frequency data and structural context.
G85D (p.Gly85Asp) variant details
- p.Gly85Asp
- gnomAD rs1373413177
- Likely benign
- Malignant hyperthermia, susceptibility to, 5; Hypokalemic periodic paralysis, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.52
- CADD 17.00
- PolyPhen-2 0.16
- SIFT 0.57
- ClinVar: Likely benign (Malignant hyperthermia, susceptibility to, 5; Hypokalemic period)
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available