Q15R (p.Gln15Arg) variant of ADCY5 (Adenylate cyclase type 5)
Q15R (p.Gln15Arg) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q15R (p.Gln15Arg) variant details
- p.Gln15Arg
- rs1406512689
- ClinGen CA354359034
- ClinVar RCV002695282
- ClinVar RCV004973563
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.21
- MetaLR 0.19
- MetaSVM -0.80
- CADD 16.60
- PolyPhen-2 0.35
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00019)
- 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)