N33S (p.Asn33Ser) variant of ITGA2B (Integrin alpha-IIb)
N33S (p.Asn33Ser) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
N33S (p.Asn33Ser) variant details
- p.Asn33Ser
- ExAC rs773316703
- gnomAD rs773316703
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.76
- MetaLR 0.85
- MetaSVM 0.91
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available