S99T (p.Ser99Thr) variant of ABCC9 (O60706)
S99T (p.Ser99Thr) 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; Intellectual disability and myopathy syndrome; Hypert. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S99T (p.Ser99Thr) variant details
- p.Ser99Thr
- rs1270249014
- ClinGen CA384129715
- ClinVar RCV001917845
- ClinVar RCV002490189
- Uncertain significance
- Dilated cardiomyopathy 1O; Intellectual disability and myopathy syndrome; Hypert
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.32
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O; Intellectual disability and myopathy)
- 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)
- Cited in: Cantú Syndrome. (PMID 25275207)