K26M (p.Lys26Met) variant of PHF6 (PHD finger protein 6)
K26M (p.Lys26Met) in PHF6 (PHD finger protein 6) 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 0.47 / 1. The record also includes structural context.
K26M (p.Lys26Met) variant details
- p.Lys26Met
- rs2077284287
- ClinGen CA414710755
- ClinVar RCV002473394
- TOPMed rs2077284287
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- AlphaMissense 0.23
- MetaLR 0.50
- MetaSVM -0.09
- PolyPhen-2 0.01
- SIFT 0.23
- MutPred 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available