N113D (p.Asn113Asp) variant of PKD1 (Polycystin-1)
N113D (p.Asn113Asp) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
N113D (p.Asn113Asp) variant details
- p.Asn113Asp
- TOPMed rs1356177978
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.04
- MetaLR 0.19
- MetaSVM -0.91
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available