A110V (p.Ala110Val) variant of ABCC8 (Q09428)
A110V (p.Ala110Val) 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 0.72 / 1. The record also includes population frequency data and structural context.
A110V (p.Ala110Val) variant details
- p.Ala110Val
- TOPMed rs894014049
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.69
- AlphaMissense 0.77
- MetaLR 0.71
- MetaSVM 0.55
- CADD 25.20
- PolyPhen-2 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available