A60T (p.Ala60Thr) variant of CRB1 (Protein crumbs homolog 1)
A60T (p.Ala60Thr) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A60T (p.Ala60Thr) variant details
- p.Ala60Thr
- rs750294087
- ClinGen CA1311588
- ClinVar RCV003203296
- ExAC rs750294087
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.05
- MetaLR 0.45
- MetaSVM -0.65
- CADD 0.93
- PolyPhen-2 0.01
- SIFT 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- 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)