A3P (p.Ala3Pro) variant of ITGB3 (Integrin beta-3)
A3P (p.Ala3Pro) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
A3P (p.Ala3Pro) variant details
- p.Ala3Pro
- rs1337664600
- ClinGen CA400028213
- ClinVar RCV003873214
- TOPMed rs1337664600
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- MetaLR 0.08
- MetaSVM -0.84
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.7e-06)
- Structural context available