N31T (p.Asn31Thr) variant of CRB1 (Protein crumbs homolog 1)
N31T (p.Asn31Thr) in CRB1 (Protein crumbs homolog 1) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
N31T (p.Asn31Thr) variant details
- p.Asn31Thr
- rs1030616952
- ClinGen CA36046639
- ClinVar RCV003304125
- TOPMed rs1030616952
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.14
- MetaLR 0.51
- MetaSVM -0.47
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)