R28G (p.Arg28Gly) variant of CACNA1D (Q01668)
R28G (p.Arg28Gly) in CACNA1D (Q01668) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R28G (p.Arg28Gly) variant details
- p.Arg28Gly
- rs1475120903
- ClinGen CA353381703
- ClinVar RCV002915624
- ClinVar RCV003777937
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.28
- MetaLR 0.74
- MetaSVM -0.00
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- 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: 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)