P7L (p.Pro7Leu) variant of ITGB3 (Integrin beta-3)
P7L (p.Pro7Leu) 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 0.52 / 1. The record also includes population frequency data and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- rs1216806597
- ClinGen CA400028261
- ClinVar RCV003882179
- TOPMed rs1216806597
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- MetaLR 0.06
- MetaSVM -1.00
- CADD 10.50
- PolyPhen-2 0.01
- SIFT 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available