S2N (p.Ser2Asn) variant of AQP4 (Aquaporin-4)
S2N (p.Ser2Asn) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S2N (p.Ser2Asn) variant details
- p.Ser2Asn
- ESP rs375551135
- TOPMed rs375551135
- gnomAD rs375551135
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.33
- CADD 23.20
- PolyPhen-2 0.30
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available