L21V (p.Leu21Val) variant of ITGA2B (Integrin alpha-IIb)
L21V (p.Leu21Val) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- ExAC rs757861227
- gnomAD rs757861227
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.39
- MetaLR 0.71
- MetaSVM -0.07
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available