S3T (p.Ser3Thr) variant of HNRNPU (Q00839)
S3T (p.Ser3Thr) in HNRNPU (Q00839) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S3T (p.Ser3Thr) variant details
- p.Ser3Thr
- rs1680942323
- ClinGen CA345498545
- ClinVar RCV002777295
- Ensembl rs1680942323
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 23.60
- PolyPhen-2 0.90
- SIFT 0.35
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)