G29A (p.Gly29Ala) variant of PHF6 (PHD finger protein 6)
G29A (p.Gly29Ala) 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 Borjeson-Forssman-Lehmann syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
G29A (p.Gly29Ala) variant details
- p.Gly29Ala
- rs2077284343
- ClinGen CA414710779
- ClinVar RCV001307926
- Ensembl rs2077284343
- Uncertain significance
- Borjeson-Forssman-Lehmann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 0.94
- MetaLR 0.79
- MetaSVM 0.66
- PolyPhen-2 1.00
- SIFT 0.14
- EVE 0.83
- ClinVar: Uncertain significance (Borjeson-Forssman-Lehmann syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available