F83L (p.Phe83Leu) variant of ABCC8 (Q09428)
F83L (p.Phe83Leu) in ABCC8 (Q09428) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
F83L (p.Phe83Leu) variant details
- p.Phe83Leu
- gnomAD rs1463898525
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.63
- CADD 16.10
- PolyPhen-2 0.03
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available