I146N (p.Ile146Asn) variant of ABCC9 (O60706)
I146N (p.Ile146Asn) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Dilated cardiomyopathy 1O; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
I146N (p.Ile146Asn) variant details
- p.Ile146Asn
- rs149325742
- ClinGen CA6481859
- ClinVar RCV001051007
- ClinVar RCV002223976
- Uncertain significance
- not provided; Dilated cardiomyopathy 1O; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.81
- CADD 24.00
- PolyPhen-2 0.34
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Dilated cardiomyopathy 1O; Cardiovascular phenotyp)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.29)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)