P18L (p.Pro18Leu) variant of DAP3 (P51398)
P18L (p.Pro18Leu) in DAP3 (P51398) is a missense change. Clinical records from ClinVar 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 0.12 / 1. The record also includes population frequency data and structural context.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- TOPMed rs1278123325
- gnomAD rs1278123325
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 5.44
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available