E58K (p.Glu58Lys) variant of HOGA1 (Q86XE5)
E58K (p.Glu58Lys) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E58K (p.Glu58Lys) variant details
- p.Glu58Lys
- gnomAD 10-97584875-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.63
- MetaSVM 0.16
- CADD 21.90
- Population evidence available
- Structural context available
- Literature evidence available