S8I (p.Ser8Ile) variant of ADCY5 (Adenylate cyclase type 5)
S8I (p.Ser8Ile) 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 not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S8I (p.Ser8Ile) variant details
- p.Ser8Ile
- rs1945873405
- ClinGen CA354359077
- ClinVar RCV003118946
- ClinVar RCV005554912
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.38
- MetaLR 0.32
- MetaSVM -0.44
- CADD 23.80
- PolyPhen-2 0.28
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.7e-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)