T49I (p.Thr49Ile) variant of HOGA1 (Q86XE5)
T49I (p.Thr49Ile) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T49I (p.Thr49Ile) variant details
- p.Thr49Ile
- gnomAD rs1299906291
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.25
- MetaLR 0.72
- MetaSVM 0.12
- CADD 22.40
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available