S2P (p.Ser2Pro) variant of LDB3 (LIM domain-binding protein 3)
S2P (p.Ser2Pro) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S2P (p.Ser2Pro) variant details
- p.Ser2Pro
- TOPMed rs1564626023
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.11
- AlphaMissense 0.16
- MetaLR 0.09
- MetaSVM -0.89
- CADD 24.90
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score 0.0033