F72C (p.Phe72Cys) variant of HOGA1 (Q86XE5)
F72C (p.Phe72Cys) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
F72C (p.Phe72Cys) variant details
- p.Phe72Cys
- gnomAD 10-97598778-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.63
- MetaLR 0.87
- MetaSVM 0.94
- CADD 28.20
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available