S27L (p.Ser27Leu) variant of HOGA1 (Q86XE5)
S27L (p.Ser27Leu) in HOGA1 (Q86XE5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S27L (p.Ser27Leu) variant details
- p.Ser27Leu
- rs767786474
- ClinGen CA5633821
- ClinVar RCV002704503
- ExAC rs767786474
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.71
- MetaSVM 0.25
- CADD 21.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)