G71S (p.Gly71Ser) variant of HOGA1 (Q86XE5)
G71S (p.Gly71Ser) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G71S (p.Gly71Ser) variant details
- p.Gly71Ser
- gnomAD 10-97584914-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.96
- MetaSVM 1.08
- CADD 34.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available