P12S (p.Pro12Ser) variant of LDB3 (LIM domain-binding protein 3)
P12S (p.Pro12Ser) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- Ensembl rs113065084
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.51
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.307