A24G (p.Ala24Gly) variant of CACNA1D (Q01668)
A24G (p.Ala24Gly) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A24G (p.Ala24Gly) variant details
- p.Ala24Gly
- rs917022424
- ClinGen CA75053224
- ClinVar RCV003864406
- ClinVar RCV005311091
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.22
- MetaLR 0.78
- MetaSVM 0.29
- CADD 21.00
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)