N16S (p.Asn16Ser) variant of ABCC9 (O60706)
N16S (p.Asn16Ser) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; Dilated cardiomyopathy 1O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
N16S (p.Asn16Ser) variant details
- p.Asn16Ser
- rs727502877
- ClinGen CA175175
- ClinVar RCV000150126
- ClinVar RCV000458476
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Dilated cardiomyopathy 1O
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.15
- CADD 1.81
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Dilated cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)