p.Pro46 Gln47del variant of PPP2R5D (Q14738)
p.Pro46 Gln47del in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro46 Gln47del variant details
- gnomAD 6-43006471-GCAGCC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.197
- CADD 16.40
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Literature evidence available