T33S (p.Thr33Ser) variant of LDB3 (LIM domain-binding protein 3)
T33S (p.Thr33Ser) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T33S (p.Thr33Ser) variant details
- p.Thr33Ser
- ExAC rs777894465
- gnomAD rs777894465
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.11
- CADD 23.80
- PolyPhen-2 0.75
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0068