N33S (p.Asn33Ser) variant of AQP2 (Aquaporin-2)
N33S (p.Asn33Ser) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
N33S (p.Asn33Ser) variant details
- p.Asn33Ser
- gnomAD 12-49950928-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.21
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.74
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available