H36Q (p.His36Gln) variant of ABCC8 (Q09428)
H36Q (p.His36Gln) in ABCC8 (Q09428) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
H36Q (p.His36Gln) variant details
- p.His36Gln
- ExAC rs757935183
- TOPMed rs757935183
- gnomAD rs757935183
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.51
- CADD 19.00
- PolyPhen-2 1.00
- SIFT 0.20
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available