A11V (p.Ala11Val) variant of RBM20 (RNA-binding protein 20)
A11V (p.Ala11Val) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- rs794726895
- ClinGen CA238690
- ClinVar RCV000173229
- ClinVar RCV005089876
- Uncertain significance
- not provided; Dilated cardiomyopathy 1DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.28
- MetaLR 0.51
- MetaSVM -0.35
- CADD 19.30
- PolyPhen-2 0.03
- SIFT 0.15
- ClinVar: Uncertain significance (not provided; Dilated cardiomyopathy 1DD)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)