P26S (p.Pro26Ser) variant of LDB3 (LIM domain-binding protein 3)
P26S (p.Pro26Ser) 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 not provided; Myofibrillar myopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P26S (p.Pro26Ser) variant details
- p.Pro26Ser
- rs778865072
- ClinGen CA5584572
- ClinVar RCV001768464
- ClinVar RCV002540245
- Uncertain significance
- not provided; Myofibrillar myopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.48
- CADD 27.20
- PolyPhen-2 0.64
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Myofibrillar myopathy 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.848