G20S (p.Gly20Ser) variant of LDB3 (LIM domain-binding protein 3)
G20S (p.Gly20Ser) 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 0.69 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G20S (p.Gly20Ser) variant details
- p.Gly20Ser
- rs2492474388
- ClinGen CA377448769
- ClinVar RCV003613287
- Uncertain significance
- Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.59
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.813