G11R (p.Gly11Arg) variant of LDB3 (LIM domain-binding protein 3)
G11R (p.Gly11Arg) 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 Myofibrillar myopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- rs370493508
- ClinGen CA5584565
- ClinVar RCV001305116
- ESP rs370493508
- Uncertain significance
- Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.43
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0785