S123T (p.Ser123Thr) variant of PKD1 (Polycystin-1)
S123T (p.Ser123Thr) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S123T (p.Ser123Thr) variant details
- p.Ser123Thr
- ExAC rs748717453
- TOPMed rs748717453
- gnomAD rs748717453
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.21
- MetaLR 0.29
- MetaSVM -0.36
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available