F42C (p.Phe42Cys) variant of ABCC9 (O60706)
F42C (p.Phe42Cys) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1O; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
F42C (p.Phe42Cys) variant details
- p.Phe42Cys
- gnomAD rs1200685317
- Uncertain significance
- Dilated cardiomyopathy 1O; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.77
- CADD 28.50
- PolyPhen-2 0.95
- SIFT 0.05
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O; not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available