V113I (p.Val113Ile) variant of ABCC9 (O60706)
V113I (p.Val113Ile) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary familial dilated cardiomyopathy; Cardiovascular phenotype; Dilated cardi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V113I (p.Val113Ile) variant details
- p.Val113Ile
- rs200723629
- ClinGen CA6481898
- cosmic curated COSV53963
- ClinVar RCV000622569
- Uncertain significance
- Primary familial dilated cardiomyopathy; Cardiovascular phenotype; Dilated cardi
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.28
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (Primary familial dilated cardiomyopathy; Cardiovascular phenotyp)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)