L57P (p.Leu57Pro) variant of HOGA1 (Q86XE5)
L57P (p.Leu57Pro) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
L57P (p.Leu57Pro) variant details
- p.Leu57Pro
- Ensembl rs2040955233
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.95
- MetaSVM 1.10
- CADD 32.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available