N75S (p.Asn75Ser) variant of LDB3 (LIM domain-binding protein 3)
N75S (p.Asn75Ser) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N75S (p.Asn75Ser) variant details
- p.Asn75Ser
- gnomAD 10-86679497-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.14
- CADD 22.40
- PolyPhen-2 0.23
- SIFT 0.12
- Population evidence available
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.05
- Literature evidence available