G3R (p.Gly3Arg) variant of HOGA1 (Q86XE5)
G3R (p.Gly3Arg) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G3R (p.Gly3Arg) variant details
- p.Gly3Arg
- gnomAD 10-97584710-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.69
- MetaSVM -0.02
- CADD 11.33
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available