T49S (p.Thr49Ser) variant of HOGA1 (Q86XE5)
T49S (p.Thr49Ser) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T49S (p.Thr49Ser) variant details
- p.Thr49Ser
- gnomAD rs2040954893
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.62
- MetaSVM -0.15
- CADD 20.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available