H102Q (p.His102Gln) variant of ABCC8 (Q09428)
H102Q (p.His102Gln) 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 0.30 / 1. The record also includes population frequency data and structural context.
H102Q (p.His102Gln) variant details
- p.His102Gln
- ExAC rs759952645
- gnomAD rs759952645
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.30
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.12
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available