S37R (p.Ser37Arg) variant of ITGB3 (Integrin beta-3)
S37R (p.Ser37Arg) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S37R (p.Ser37Arg) variant details
- p.Ser37Arg
- ExAC rs753146344
- TOPMed rs753146344
- gnomAD rs753146344
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- MetaLR 0.04
- MetaSVM -1.10
- CADD 16.40
- PolyPhen-2 0.16
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available