T43I (p.Thr43Ile) variant of HOGA1 (Q86XE5)
T43I (p.Thr43Ile) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
T43I (p.Thr43Ile) variant details
- p.Thr43Ile
- gnomAD 10-97584831-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.41
- MetaLR 0.73
- MetaSVM 0.40
- CADD 21.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available