S2F (p.Ser2Phe) variant of LDB3 (LIM domain-binding protein 3)
S2F (p.Ser2Phe) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S2F (p.Ser2Phe) variant details
- p.Ser2Phe
- gnomAD 10-86668696-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.28
- CADD 27.50
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score 0.0033
- Literature evidence available