T44S (p.Thr44Ser) variant of HOGA1 (Q86XE5)
T44S (p.Thr44Ser) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T44S (p.Thr44Ser) variant details
- p.Thr44Ser
- gnomAD 10-97584833-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.55
- MetaLR 0.96
- MetaSVM 1.10
- CADD 26.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available