A50T (p.Ala50Thr) variant of HOGA1 (Q86XE5)
A50T (p.Ala50Thr) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- gnomAD 10-97584851-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.19
- ESM-1b 0.48
- AlphaMissense 0.10
- MetaLR 0.59
- MetaSVM -0.22
- CADD 20.90
- Population evidence available
- Structural context available
- Literature evidence available