A30T (p.Ala30Thr) variant of ABCC8 (Q09428)
A30T (p.Ala30Thr) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- rs1474215749
- ClinGen CA379790027
- ClinVar RCV004543958
- ClinVar RCV006479054
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.63
- CADD 28.90
- PolyPhen-2 0.78
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available