L27V (p.Leu27Val) variant of LDB3 (LIM domain-binding protein 3)
L27V (p.Leu27Val) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- gnomAD 10-86668770-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.26
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.375
- Literature evidence available