P40L (p.Pro40Leu) variant of HOGA1 (Q86XE5)
P40L (p.Pro40Leu) in HOGA1 (Q86XE5) 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 0.74 / 1. The record also includes population frequency data and structural context.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- cosmic curated COSV53968
- TOPMed rs1173270983
- gnomAD rs1173270983
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.76
- ESM-1b 0.14
- AlphaMissense 0.40
- MetaLR 0.94
- MetaSVM 1.08
- CADD 28.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available