S19C (p.Ser19Cys) variant of HOGA1 (Q86XE5)
S19C (p.Ser19Cys) in HOGA1 (Q86XE5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S19C (p.Ser19Cys) variant details
- p.Ser19Cys
- ExAC rs768415273
- TOPMed rs768415273
- gnomAD rs768415273
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.63
- MetaSVM -0.24
- CADD 8.06
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available