T8P (p.Thr8Pro) variant of LDB3 (LIM domain-binding protein 3)
T8P (p.Thr8Pro) 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, and structural context.
T8P (p.Thr8Pro) variant details
- p.Thr8Pro
- cosmic curated COSV10502
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.03
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score 0.244