S118T (p.Ser118Thr) variant of PKD1 (Polycystin-1)
S118T (p.Ser118Thr) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S118T (p.Ser118Thr) variant details
- p.Ser118Thr
- gnomAD rs1267295455
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.11
- MetaLR 0.18
- MetaSVM -0.76
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.49
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available