A72V (p.Ala72Val) variant of LDB3 (LIM domain-binding protein 3)
A72V (p.Ala72Val) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A72V (p.Ala72Val) variant details
- p.Ala72Val
- cosmic curated COSV99555
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.32
- CADD 26.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0393