P12T (p.Pro12Thr) variant of LDB3 (LIM domain-binding protein 3)
P12T (p.Pro12Thr) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P12T (p.Pro12Thr) variant details
- p.Pro12Thr
- gnomAD 10-86668725-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.55
- CADD 26.80
- 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 -0.307
- Literature evidence available