S2G (p.Ser2Gly) variant of ABCC9 (O60706)
S2G (p.Ser2Gly) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S2G (p.Ser2Gly) variant details
- p.Ser2Gly
- rs1485712335
- ClinGen CA384134076
- ClinVar RCV000640328
- ClinVar RCV002334111
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1O
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.25
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1O)
- 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)