K149N (p.Lys149Asn) variant of ITGA2B (Integrin alpha-IIb)
K149N (p.Lys149Asn) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
K149N (p.Lys149Asn) variant details
- p.Lys149Asn
- TOPMed rs2048641804
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.04
- MetaLR 0.17
- MetaSVM -0.99
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available