D29G (p.Asp29Gly) variant of ABCC8 (Q09428)
D29G (p.Asp29Gly) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
D29G (p.Asp29Gly) variant details
- p.Asp29Gly
- rs1591934736
- ClinGen CA379790032
- ClinVar RCV003236419
- Ensembl rs1591934736
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.90
- CADD 33.00
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available