L21W (p.Leu21Trp) variant of ITGA2B (Integrin alpha-IIb)
L21W (p.Leu21Trp) 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.
L21W (p.Leu21Trp) variant details
- p.Leu21Trp
- gnomAD rs1213310591
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.39
- MetaLR 0.71
- MetaSVM 0.10
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available