S4S (p.Ser4Ser) variant of PKD2 (Polycystin-2)
S4S (p.Ser4Ser) in PKD2 (Polycystin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S4S (p.Ser4Ser) variant details
- p.Ser4Ser
- rs1391499589
- gnomAD 4-88007745-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.32
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available