I49T (p.Ile49Thr) variant of ABCC8 (Q09428)
I49T (p.Ile49Thr) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
I49T (p.Ile49Thr) variant details
- p.Ile49Thr
- gnomAD rs1338924544
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.82
- CADD 32.00
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available