S54P (p.Ser54Pro) variant of PPP2R5D (Q14738)
S54P (p.Ser54Pro) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Houge-Janssens syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
S54P (p.Ser54Pro) variant details
- p.Ser54Pro
- rs1226113951
- ClinGen CA364179059
- ClinVar RCV001336933
- TOPMed rs1226113951
- Uncertain significance
- Houge-Janssens syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0648
- REVEL 0.01
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Houge-Janssens syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: PPP2R5D-Related Neurodevelopmental Disorder. (PMID 30676711)