T33I (p.Thr33Ile) variant of LDB3 (LIM domain-binding protein 3)
T33I (p.Thr33Ile) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T33I (p.Thr33Ile) variant details
- p.Thr33Ile
- cosmic curated COSV99554
- Ensembl rs1844982244
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.35
- CADD 26.10
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0068