W13C (p.Trp13Cys) variant of LDB3 (LIM domain-binding protein 3)
W13C (p.Trp13Cys) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, and structural context.
W13C (p.Trp13Cys) variant details
- p.Trp13Cys
- gnomAD rs1844289659
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.58
- CADD 33.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score 0.0349