T76R (p.Thr76Arg) variant of ABCC9 (O60706)
T76R (p.Thr76Arg) in ABCC9 (O60706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
T76R (p.Thr76Arg) variant details
- p.Thr76Arg
- Ensembl rs745330137
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.84
- CADD 26.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 0.00046)
- Structural context available