L43V (p.Leu43Val) variant of LDB3 (LIM domain-binding protein 3)
L43V (p.Leu43Val) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L43V (p.Leu43Val) variant details
- p.Leu43Val
- gnomAD 10-86679400-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.17
- CADD 16.00
- PolyPhen-2 0.06
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.918
- Literature evidence available