S44R (p.Ser44Arg) variant of LDB3 (LIM domain-binding protein 3)
S44R (p.Ser44Arg) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S44R (p.Ser44Arg) variant details
- p.Ser44Arg
- gnomAD 10-86679405-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.06
- CADD 22.80
- PolyPhen-2 0.33
- SIFT 0.01
- Population evidence available
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.11
- Literature evidence available