Q116K (p.Gln116Lys) variant of ITGA2B (Integrin alpha-IIb)
Q116K (p.Gln116Lys) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q116K (p.Gln116Lys) variant details
- p.Gln116Lys
- Ensembl rs2048644287
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.14
- MetaLR 0.33
- MetaSVM -0.87
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.93
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available