N3S (p.Asn3Ser) variant of PKD2 (Polycystin-2)
N3S (p.Asn3Ser) in PKD2 (Polycystin-2) 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, published literature, and structural context.
N3S (p.Asn3Ser) variant details
- p.Asn3Ser
- gnomAD 4-88007741-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.06
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available