S5N (p.Ser5Asn) variant of PKD2 (Polycystin-2)
S5N (p.Ser5Asn) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S5N (p.Ser5Asn) variant details
- p.Ser5Asn
- gnomAD 4-88007747-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.22
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available