P10A (p.Pro10Ala) variant of LDB3 (LIM domain-binding protein 3)
P10A (p.Pro10Ala) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P10A (p.Pro10Ala) variant details
- p.Pro10Ala
- gnomAD 10-86668719-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.36
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0369
- Literature evidence available