Q30R (p.Gln30Arg) variant of PHF6 (PHD finger protein 6)
Q30R (p.Gln30Arg) 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 0.50 / 1. The record also includes structural context.
Q30R (p.Gln30Arg) variant details
- p.Gln30Arg
- rs2077284380
- ClinGen CA414710784
- ClinVar RCV002711681
- Ensembl rs2077284380
- Uncertain significance
- Borjeson-Forssman-Lehmann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- AlphaMissense 0.23
- MetaLR 0.47
- MetaSVM -0.19
- PolyPhen-2 0.02
- SIFT 0.62
- EVE 0.79
- ClinVar: Uncertain significance (Borjeson-Forssman-Lehmann syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available