S71T (p.Ser71Thr) variant of LDB3 (LIM domain-binding protein 3)
S71T (p.Ser71Thr) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S71T (p.Ser71Thr) variant details
- p.Ser71Thr
- gnomAD 10-86679484-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.09
- CADD 25.30
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0207
- Literature evidence available