G47A (p.Gly47Ala) variant of ADCY5 (Adenylate cyclase type 5)
G47A (p.Gly47Ala) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G47A (p.Gly47Ala) variant details
- p.Gly47Ala
- rs1945870281
- ClinGen CA354358833
- ClinVar RCV004371165
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.11
- MetaLR 0.14
- MetaSVM -0.95
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.5e-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)