p.Pro42 Gln47del variant of PPP2R5D (Q14738)
p.Pro42 Gln47del in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro42 Gln47del variant details
- rs761162230
- gnomAD 6-43006463-GCCCAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 17.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available