A65T (p.Ala65Thr) variant of LDB3 (LIM domain-binding protein 3)
A65T (p.Ala65Thr) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A65T (p.Ala65Thr) variant details
- p.Ala65Thr
- Ensembl rs1589618018
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.51
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.798