N113S (p.Asn113Ser) variant of PKD1 (Polycystin-1)
N113S (p.Asn113Ser) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N113S (p.Asn113Ser) variant details
- p.Asn113Ser
- TOPMed rs1315541372
- gnomAD rs1315541372
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.06
- MetaLR 0.10
- MetaSVM -1.00
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 0.00046)
- Structural context available