T61P (p.Thr61Pro) variant of LDB3 (LIM domain-binding protein 3)
T61P (p.Thr61Pro) in LDB3 (LIM domain-binding protein 3) is a missense change. 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.
T61P (p.Thr61Pro) variant details
- p.Thr61Pro
- ExAC rs757553784
- gnomAD rs757553784
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.57
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.213