P26L (p.Pro26Leu) variant of LDB3 (LIM domain-binding protein 3)
P26L (p.Pro26Leu) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- gnomAD 10-86668768-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.48
- CADD 30.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.848
- Literature evidence available