A4S (p.Ala4Ser) variant of ITGA2B (Integrin alpha-IIb)
A4S (p.Ala4Ser) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- rs537367984
- NCI-TCGA Cosmic COSV9905
- ExAC rs537367984
- TOPMed rs537367984
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.28
- MetaLR 0.65
- MetaSVM 0.07
- CADD 17.10
- PolyPhen-2 0.08
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available