D132N (p.Asp132Asn) variant of AQP3 (Aquaporin-3)
D132N (p.Asp132Asn) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
D132N (p.Asp132Asn) variant details
- p.Asp132Asn
- cosmic curated COSV53047
- 1000Genomes rs2231233
- ESP rs2231233
- ExAC rs2231233
- Missense
- Variant Prioritization Score for Impact Estimate 0.0599
- REVEL 0.02
- CADD 4.23
- PolyPhen-2 0.00
- SIFT 0.70
- Most common in the HGDP:DAI population (allele frequency 0.056)
- Structural context available