A36T (p.Ala36Thr) variant of HOGA1 (Q86XE5)
A36T (p.Ala36Thr) in HOGA1 (Q86XE5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary hyperoxaluria type 3; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- rs573292460
- ClinGen CA5633832
- cosmic curated COSV10008
- ClinVar RCV000415756
- Uncertain significance
- Primary hyperoxaluria type 3; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.38
- MetaSVM -0.47
- CADD 0.20
- ClinVar: Uncertain significance (Primary hyperoxaluria type 3; Inborn genetic diseases; not provi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0012)
- 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)