R15H (p.Arg15His) variant of PHF6 (PHD finger protein 6)
R15H (p.Arg15His) 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 0.54 / 1. The record also includes population frequency data and structural context.
R15H (p.Arg15His) variant details
- p.Arg15His
- rs1302895379
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10013
- TOPMed rs1302895379
- Uncertain significance
- Borjeson-Forssman-Lehmann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.45
- CADD 22.90
- PolyPhen-2 0.21
- SIFT 0.10
- ClinVar: Uncertain significance (Borjeson-Forssman-Lehmann syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available