S49F (p.Ser49Phe) variant of ADCY5 (Adenylate cyclase type 5)
S49F (p.Ser49Phe) 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 Inborn genetic diseases; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S49F (p.Ser49Phe) variant details
- p.Ser49Phe
- rs762609054
- ClinGen CA2577737
- ClinVar RCV001913610
- ClinVar RCV004042838
- Conflicting interpretations
- Inborn genetic diseases; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.27
- MetaLR 0.25
- MetaSVM -0.61
- CADD 18.40
- PolyPhen-2 0.11
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00026)
- 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)