S2N (p.Ser2Asn) variant of ABCC9 (O60706)
S2N (p.Ser2Asn) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1O; Hypertrichotic osteochondrodysplasia Cantu type; Atri. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S2N (p.Ser2Asn) variant details
- p.Ser2Asn
- rs1359649036
- ClinGen CA384134071
- ClinVar RCV000706525
- ClinVar RCV002485773
- Uncertain significance
- Dilated cardiomyopathy 1O; Hypertrichotic osteochondrodysplasia Cantu type; Atri
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.26
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O; Hypertrichotic osteochondrodysplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00046)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Cantú Syndrome. (PMID 25275207)