P56L (p.Pro56Leu) variant of DAP3 (P51398)
P56L (p.Pro56Leu) in DAP3 (P51398) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P56L (p.Pro56Leu) variant details
- p.Pro56Leu
- TOPMed rs201385663
- gnomAD rs201385663
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.43
- CADD 26.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available