A102T (p.Ala102Thr) variant of CACNA1S (Q13698)
A102T (p.Ala102Thr) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Thyrotoxic periodic paralysis, susceptibility to, 1; Hypokalemic periodic paraly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A102T (p.Ala102Thr) variant details
- p.Ala102Thr
- rs753901380
- ClinGen CA079500
- NCI-TCGA Cosmic COSV6294
- cosmic curated COSV62941
- Conflicting interpretations
- Thyrotoxic periodic paralysis, susceptibility to, 1; Hypokalemic periodic paraly
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.23
- CADD 21.30
- PolyPhen-2 0.08
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Thyrotoxic periodic paralysis, susceptibility to, 1; Hypokalemic)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00018)
- 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)