L104P (p.Leu104Pro) variant of ABCC8 (Q09428)
L104P (p.Leu104Pro) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
L104P (p.Leu104Pro) variant details
- p.Leu104Pro
- Ensembl rs1848405429
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.73
- CADD 23.80
- PolyPhen-2 0.32
- SIFT 0.19
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available