N115S (p.Asn115Ser) variant of ADNP (Q9H2P0)
N115S (p.Asn115Ser) in ADNP (Q9H2P0) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
N115S (p.Asn115Ser) variant details
- p.Asn115Ser
- rs140023121
- ClinGen CA9908903
- ClinVar RCV002534933
- ClinVar RCV004026890
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 22.60
- PolyPhen-2 0.97
- SIFT 0.85
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-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)