p.Gln41 Pro42insThrGln variant of PPP2R5D (Q14738)
p.Gln41 Pro42insThrGln in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gln41 Pro42insThrGln variant details
- gnomAD 6-43006475-C-CCCC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 13.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available