T30S (p.Thr30Ser) variant of CACNA1D (Q01668)
T30S (p.Thr30Ser) in CACNA1D (Q01668) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
T30S (p.Thr30Ser) variant details
- p.Thr30Ser
- rs2090388068
- ClinGen CA353381720
- ClinVar RCV002765653
- ClinVar RCV004067841
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- AlphaMissense 0.09
- MetaLR 0.71
- MetaSVM -0.44
- PolyPhen-2 0.00
- SIFT 0.19
- MutPred 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)