L39P (p.Leu39Pro) variant of ABCC8 (Q09428)
L39P (p.Leu39Pro) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
L39P (p.Leu39Pro) variant details
- p.Leu39Pro
- Ensembl rs865955550
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available