A6T (p.Ala6Thr) variant of RBM20 (RNA-binding protein 20)
A6T (p.Ala6Thr) in RBM20 (RNA-binding protein 20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1DD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- rs758772050
- ClinGen CA5688484
- ClinVar RCV001754128
- ClinVar RCV002032746
- Uncertain significance
- Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.30
- MetaLR 0.59
- MetaSVM -0.25
- CADD 26.40
- PolyPhen-2 0.90
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)