G248V (p.Gly248Val) variant of PHF6 (PHD finger protein 6)
G248V (p.Gly248Val) 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 0.76 / 1. The record also includes structural context.
G248V (p.Gly248Val) variant details
- p.Gly248Val
- rs2077467203
- ClinGen CA414713137
- ClinVar RCV003228889
- ClinVar RCV005930792
- Pathogenic
- Borjeson-Forssman-Lehmann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- AlphaMissense 1.00
- MetaLR 0.81
- MetaSVM 0.55
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.51
- ClinVar: Pathogenic (Borjeson-Forssman-Lehmann syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available