N43D (p.Asn43Asp) variant of BAG3 (O95817)
N43D (p.Asn43Asp) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N43D (p.Asn43Asp) variant details
- p.Asn43Asp
- rs537615906
- ClinGen CA5716221
- ClinVar RCV004325761
- 1000Genomes rs537615906
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.68
- CADD 27.60
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.788