S50S (p.Ser50Ser) variant of PPP2R5D (Q14738)
S50S (p.Ser50Ser) in PPP2R5D (Q14738) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S50S (p.Ser50Ser) variant details
- p.Ser50Ser
- gnomAD 6-43006507-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0767
- CADD 4.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available