S53L (p.Ser53Leu) variant of ITGA2B (Integrin alpha-IIb)
S53L (p.Ser53Leu) 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.
S53L (p.Ser53Leu) variant details
- p.Ser53Leu
- gnomAD rs2048677906
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.65
- MetaLR 0.80
- MetaSVM 0.75
- CADD 28.20
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available