T8S (p.Thr8Ser) variant of LDB3 (LIM domain-binding protein 3)
T8S (p.Thr8Ser) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T8S (p.Thr8Ser) variant details
- p.Thr8Ser
- gnomAD 10-86668713-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.04
- CADD 18.90
- PolyPhen-2 0.02
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score 0.244
- Literature evidence available