G77R (p.Gly77Arg) variant of PPP2R5D (Q14738)
G77R (p.Gly77Arg) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G77R (p.Gly77Arg) variant details
- p.Gly77Arg
- gnomAD rs1281707054
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.24
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available