A13T (p.Ala13Thr) variant of ABCC8 (Q09428)
A13T (p.Ala13Thr) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- gnomAD rs1343830800
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.13
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.70
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available