G76V (p.Gly76Val) variant of PPP2R5D (Q14738)
G76V (p.Gly76Val) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G76V (p.Gly76Val) variant details
- p.Gly76Val
- 1000Genomes rs199635607
- ExAC rs199635607
- TOPMed rs199635607
- gnomAD rs199635607
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.34
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available