S55del (p.Ser55del) variant of PPP2R5D (Q14738)
S55del (p.Ser55del) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S55del (p.Ser55del) variant details
- gnomAD 6-43006516-GTCA-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.187
- CADD 15.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available