M80I (p.Met80Ile) variant of ABCC8 (Q09428)
M80I (p.Met80Ile) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
M80I (p.Met80Ile) variant details
- p.Met80Ile
- TOPMed rs1242711631
- gnomAD rs1242711631
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.32
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available