V268L (p.Val268Leu) variant of PHF6 (PHD finger protein 6)
V268L (p.Val268Leu) in PHF6 (PHD finger protein 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Borjeson-Forssman-Lehmann syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
V268L (p.Val268Leu) variant details
- p.Val268Leu
- rs2077467347
- ClinGen CA414713270
- ClinVar RCV001262915
- Ensembl rs2077467347
- Likely pathogenic
- Borjeson-Forssman-Lehmann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- AlphaMissense 0.43
- MetaLR 0.67
- MetaSVM 0.22
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.29
- ClinVar: Likely pathogenic (Borjeson-Forssman-Lehmann syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available