G9V (p.Gly9Val) variant of LDB3 (LIM domain-binding protein 3)
G9V (p.Gly9Val) in LDB3 (LIM domain-binding protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes experimental measurements and structural context.
G9V (p.Gly9Val) variant details
- p.Gly9Val
- rs2492473660
- ClinGen CA377448709
- ClinVar RCV002428994
- NCI-TCGA Cosmic COSV5394
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0799