S37N (p.Ser37Asn) variant of ITGB4 (Integrin beta-4)
S37N (p.Ser37Asn) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S37N (p.Ser37Asn) variant details
- p.Ser37Asn
- TOPMed rs972322019
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.38
- CADD 21.40
- PolyPhen-2 0.23
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available