L43F (p.Leu43Phe) variant of LDB3 (LIM domain-binding protein 3)
L43F (p.Leu43Phe) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L43F (p.Leu43Phe) variant details
- p.Leu43Phe
- cosmic curated COSV53947
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.43
- CADD 23.60
- PolyPhen-2 0.60
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.918