S99N (p.Ser99Asn) variant of PKD1 (Polycystin-1)
S99N (p.Ser99Asn) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in PKD1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S99N (p.Ser99Asn) variant details
- p.Ser99Asn
- Ensembl rs1567219544
- Uncertain significance
- in PKD1
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.19
- MetaLR 0.39
- MetaSVM -0.17
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.00
- EBI: Variant of uncertain significance (in PKD1)
- UniProt: Uncertain significance (in PKD1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available