H43R (p.His43Arg) variant of PHF6 (PHD finger protein 6)
H43R (p.His43Arg) in PHF6 (PHD finger protein 6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Borjeson-Forssman-Lehmann syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
H43R (p.His43Arg) variant details
- p.His43Arg
- rs1273843884
- TOPMed rs1273843884
- gnomAD rs1273843884
- Uncertain significance
- Inborn genetic diseases; Borjeson-Forssman-Lehmann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.51
- AlphaMissense 0.50
- MetaLR 0.30
- MetaSVM -0.57
- CADD 23.90
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Inborn genetic diseases; Borjeson-Forssman-Lehmann syndrome)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available