F27V (p.Phe27Val) variant of ABCC8 (Q09428)
F27V (p.Phe27Val) 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 0.68 / 1. The record also includes structural context.
F27V (p.Phe27Val) variant details
- p.Phe27Val
- rs1202763483
- ClinGen CA379790048
- ClinVar RCV001889788
- TOPMed rs1202763483
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- AlphaMissense 0.99
- MetaLR 0.75
- MetaSVM 0.29
- PolyPhen-2 0.59
- SIFT 0.20
- EVE 0.64
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in HHF1)
- UniProt: Uncertain significance (in HHF1)
- Structural context available