P9L (p.Pro9Leu) variant of DSP (Desmoplakin)
P9L (p.Pro9Leu) in DSP (Desmoplakin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- TOPMed rs1303669220
- gnomAD rs1303669220
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.18
- MetaLR 0.12
- MetaSVM -0.77
- CADD 24.00
- PolyPhen-2 0.03
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available