P35L (p.Pro35Leu) variant of ABCC8 (Q09428)
P35L (p.Pro35Leu) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- TOPMed rs990625730
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.85
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available