T119N (p.Thr119Asn) variant of ABCC8 (Q09428)
T119N (p.Thr119Asn) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
T119N (p.Thr119Asn) variant details
- p.Thr119Asn
- ExAC rs749506839
- gnomAD rs749506839
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.75
- AlphaMissense 0.33
- MetaLR 0.72
- MetaSVM 0.48
- CADD 25.10
- PolyPhen-2 0.18
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available