N145K (p.Asn145Lys) variant of ITGA2B (Integrin alpha-IIb)
N145K (p.Asn145Lys) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
N145K (p.Asn145Lys) variant details
- p.Asn145Lys
- rs1433566887
- gnomAD rs1433566887
- ClinGen CA399805991
- ClinVar RCV001290501
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.49
- MetaLR 0.68
- MetaSVM 0.19
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available