M7V (p.Met7Val) variant of RBM20 (RNA-binding protein 20)
M7V (p.Met7Val) 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 not provided; Dilated cardiomyopathy 1DD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
M7V (p.Met7Val) variant details
- p.Met7Val
- rs1590590851
- ClinGen CA378527280
- ClinVar RCV001767122
- ClinVar RCV005094967
- Uncertain significance
- not provided; Dilated cardiomyopathy 1DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.38
- MetaLR 0.44
- MetaSVM -0.53
- CADD 23.50
- PolyPhen-2 0.23
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Dilated cardiomyopathy 1DD)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)