N100D (p.Asn100Asp) variant of PKD1 (Polycystin-1)
N100D (p.Asn100Asp) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
N100D (p.Asn100Asp) variant details
- p.Asn100Asp
- gnomAD rs1159543723
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.07
- MetaLR 0.18
- MetaSVM -0.71
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available