S118L (p.Ser118Leu) variant of ABCC9 (O60706)
S118L (p.Ser118Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
S118L (p.Ser118Leu) variant details
- p.Ser118Leu
- rs2541827698
- NCI-TCGA Cosmic COSV5396
- NCI-TCGA Cosmic COSV9968
- cosmic curated COSV99686
- Uncertain significance
- Dilated cardiomyopathy 1O
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.74
- CADD 24.80
- PolyPhen-2 0.07
- SIFT 0.01
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)