S128P (p.Ser128Pro) variant of ABCC9 (O60706)
S128P (p.Ser128Pro) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
S128P (p.Ser128Pro) variant details
- p.Ser128Pro
- rs1949028117
- ClinGen CA384129238
- ClinVar RCV002364028
- ClinVar RCV003094386
- Uncertain significance
- Dilated cardiomyopathy 1O; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.75
- CADD 23.10
- PolyPhen-2 0.39
- SIFT 0.25
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O; Cardiovascular phenotype)
- 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)