N75I (p.Asn75Ile) variant of LDB3 (LIM domain-binding protein 3)
N75I (p.Asn75Ile) 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.
N75I (p.Asn75Ile) variant details
- p.Asn75Ile
- gnomAD 10-86679497-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.35
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.05
- Literature evidence available