K56R (p.Lys56Arg) variant of HOGA1 (Q86XE5)
K56R (p.Lys56Arg) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K56R (p.Lys56Arg) variant details
- p.Lys56Arg
- gnomAD 10-97584870-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.83
- MetaSVM 0.73
- CADD 21.70
- Population evidence available
- Structural context available
- Literature evidence available