G76A (p.Gly76Ala) variant of PPP2R5D (Q14738)
G76A (p.Gly76Ala) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G76A (p.Gly76Ala) variant details
- p.Gly76Ala
- rs199635607
- ClinGen CA3811777
- ClinVar RCV002027934
- ClinVar RCV005635447
- Uncertain significance
- Houge-Janssens syndrome 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.22
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Houge-Janssens syndrome 1; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: PPP2R5D-Related Neurodevelopmental Disorder. (PMID 30676711)