P68R (p.Pro68Arg) variant of HOGA1 (Q86XE5)
P68R (p.Pro68Arg) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P68R (p.Pro68Arg) variant details
- p.Pro68Arg
- TOPMed rs2040955768
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.22
- MetaLR 0.89
- MetaSVM 0.97
- CADD 26.30
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available