P69L (p.Pro69Leu) variant of ABCC8 (Q09428)
P69L (p.Pro69Leu) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
P69L (p.Pro69Leu) variant details
- p.Pro69Leu
- gnomAD rs1346510033
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.89
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available