N46K (p.Asn46Lys) variant of ITGA2B (Integrin alpha-IIb)
N46K (p.Asn46Lys) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
N46K (p.Asn46Lys) variant details
- p.Asn46Lys
- ExAC rs753794676
- gnomAD rs753794676
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.40
- MetaLR 0.49
- MetaSVM -0.34
- CADD 22.30
- PolyPhen-2 0.48
- SIFT 0.31
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available