S49A (p.Ser49Ala) variant of ADCY5 (Adenylate cyclase type 5)
S49A (p.Ser49Ala) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S49A (p.Ser49Ala) variant details
- p.Ser49Ala
- rs921195392
- ClinGen CA82636455
- ClinVar RCV002120207
- ClinVar RCV003025420
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.11
- MetaLR 0.22
- MetaSVM -0.72
- CADD 15.50
- PolyPhen-2 0.02
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00065)
- 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)