Q79R (p.Gln79Arg) variant of PPP2R5D (Q14738)
Q79R (p.Gln79Arg) in PPP2R5D (Q14738) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Q79R (p.Gln79Arg) variant details
- p.Gln79Arg
- ExAC rs763375514
- gnomAD rs763375514
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.19
- AlphaMissense 0.73
- MetaLR 0.36
- MetaSVM -0.23
- CADD 22.00
- PolyPhen-2 0.96
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available