S19P (p.Ser19Pro) variant of HOGA1 (Q86XE5)
S19P (p.Ser19Pro) in HOGA1 (Q86XE5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S19P (p.Ser19Pro) variant details
- p.Ser19Pro
- rs1324524629
- TOPMed rs1324524629
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.61
- MetaSVM -0.33
- CADD 9.91
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available