N141D (p.Asn141Asp) variant of AQP3 (Aquaporin-3)
N141D (p.Asn141Asp) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
N141D (p.Asn141Asp) variant details
- p.Asn141Asp
- gnomAD 9-33442923-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.33
- MetaLR 0.48
- MetaSVM -0.11
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available