F15L (p.Phe15Leu) variant of LDB3 (LIM domain-binding protein 3)
F15L (p.Phe15Leu) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F15L (p.Phe15Leu) variant details
- p.Phe15Leu
- ExAC rs760017084
- gnomAD rs760017084
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.69
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.673