N100S (p.Asn100Ser) variant of PKD1 (Polycystin-1)
N100S (p.Asn100Ser) 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.
N100S (p.Asn100Ser) variant details
- p.Asn100Ser
- gnomAD rs1420665040
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.07
- MetaLR 0.20
- MetaSVM -0.66
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available