C39R (p.Cys39Arg) variant of ITGB3 (Integrin beta-3)
C39R (p.Cys39Arg) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
C39R (p.Cys39Arg) variant details
- p.Cys39Arg
- TOPMed rs1880497383
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- AlphaMissense 0.99
- MetaLR 0.57
- MetaSVM 0.34
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available