A105T (p.Ala105Thr) variant of HSD17B3 (P37058)
A105T (p.Ala105Thr) in HSD17B3 (P37058) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A105T (p.Ala105Thr) variant details
- p.Ala105Thr
- rs761942775
- ClinGen CA5140454
- ClinVar RCV003245226
- ExAC rs761942775
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.40
- MetaLR 0.64
- MetaSVM 0.21
- CADD 19.70
- PolyPhen-2 0.23
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)