G77A (p.Gly77Ala) variant of PPP2R5D (Q14738)
G77A (p.Gly77Ala) in PPP2R5D (Q14738) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G77A (p.Gly77Ala) variant details
- p.Gly77Ala
- rs1478715149
- gnomAD 6-43006581-CAG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.812
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available