S37I (p.Ser37Ile) variant of ITGB4 (Integrin beta-4)
S37I (p.Ser37Ile) in ITGB4 (Integrin beta-4) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S37I (p.Ser37Ile) variant details
- p.Ser37Ile
- rs972322019
- ClinGen CA401037798
- ClinVar RCV003266896
- TOPMed rs972322019
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.85
- CADD 25.20
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)