L203P (p.Leu203Pro) variant of PPP2R5D (Q14738)
L203P (p.Leu203Pro) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L203P (p.Leu203Pro) variant details
- p.Leu203Pro
- rs2532475447
- ClinVar RCV004557288
- Likely pathogenic
- Houge-Janssens syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.74
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Likely pathogenic (Houge-Janssens syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: PPP2R5D-Related Neurodevelopmental Disorder. (PMID 30676711)