V136L (p.Val136Leu) variant of ITGA2B (Integrin alpha-IIb)
V136L (p.Val136Leu) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V136L (p.Val136Leu) variant details
- p.Val136Leu
- gnomAD rs1395743817
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.23
- MetaLR 0.16
- MetaSVM -0.87
- CADD 23.40
- PolyPhen-2 0.09
- SIFT 0.21
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.6e-05)
- Structural context available