Y12H (p.Tyr12His) variant of ADCY5 (Adenylate cyclase type 5)
Y12H (p.Tyr12His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Y12H (p.Tyr12His) variant details
- p.Tyr12His
- rs1020556677
- ClinGen CA82636582
- ClinVar RCV001955538
- ClinVar RCV004975954
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.23
- MetaLR 0.21
- MetaSVM -0.78
- CADD 24.00
- PolyPhen-2 0.37
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)