A140T (p.Ala140Thr) variant of PHF6 (PHD finger protein 6)
A140T (p.Ala140Thr) in PHF6 (PHD finger protein 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Borjeson-Forssman-Lehmann syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
A140T (p.Ala140Thr) variant details
- p.Ala140Thr
- rs864309532
- ClinGen CA339634
- cosmic curated COSV59699
- ClinVar RCV000202613
- Pathogenic
- Borjeson-Forssman-Lehmann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- AlphaMissense 0.07
- MetaLR 0.50
- MetaSVM -0.21
- PolyPhen-2 0.03
- SIFT 0.47
- MutPred 0.21
- ClinVar: Pathogenic (Borjeson-Forssman-Lehmann syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available