F67L (p.Phe67Leu) variant of HOGA1 (Q86XE5)
F67L (p.Phe67Leu) in HOGA1 (Q86XE5) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
F67L (p.Phe67Leu) variant details
- p.Phe67Leu
- ExAC rs750507401
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.52
- MetaLR 0.48
- MetaSVM -0.58
- CADD 10.78
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available