F217L (p.Phe217Leu) variant of PPP2R5D (Q14738)
F217L (p.Phe217Leu) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Houge-Janssens syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
F217L (p.Phe217Leu) variant details
- p.Phe217Leu
- TOPMed rs1762146375
- Likely pathogenic
- Houge-Janssens syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.36
- CADD 26.30
- PolyPhen-2 0.73
- SIFT 0.01
- ClinVar: Likely pathogenic (Houge-Janssens syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available