P11S (p.Pro11Ser) variant of PHF6 (PHD finger protein 6)
P11S (p.Pro11Ser) 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 Inborn genetic diseases; Borjeson-Forssman-Lehmann syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- TOPMed rs2077283804
- Uncertain significance
- Inborn genetic diseases; Borjeson-Forssman-Lehmann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.18
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Uncertain significance (Inborn genetic diseases; Borjeson-Forssman-Lehmann syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.3e-06)
- Structural context available