P10S (p.Pro10Ser) variant of LDB3 (LIM domain-binding protein 3)
P10S (p.Pro10Ser) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P10S (p.Pro10Ser) variant details
- p.Pro10Ser
- gnomAD 10-86668719-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.41
- CADD 27.10
- PolyPhen-2 1.00
- 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 -0.0369
- Literature evidence available