T63N (p.Thr63Asn) variant of ITGB4 (Integrin beta-4)
T63N (p.Thr63Asn) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
T63N (p.Thr63Asn) variant details
- p.Thr63Asn
- TOPMed rs1166211415
- gnomAD rs1166211415
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.40
- CADD 22.20
- PolyPhen-2 0.95
- SIFT 0.32
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available