W49S (p.Trp49Ser) variant of ABCC9 (O60706)
W49S (p.Trp49Ser) 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; Hypertrichotic osteochondrodysplasia Cantu type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
W49S (p.Trp49Ser) variant details
- p.Trp49Ser
- rs886049175
- ClinGen CA10640705
- ClinVar RCV000281417
- ClinVar RCV000320964
- Uncertain significance
- Dilated cardiomyopathy 1O; Hypertrichotic osteochondrodysplasia Cantu type
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.88
- CADD 26.40
- PolyPhen-2 0.67
- SIFT 0.01
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O; Hypertrichotic osteochondrodysplasia)
- 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)