N41D (p.Asn41Asp) variant of AQP1 (Aquaporin-1)
N41D (p.Asn41Asp) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
N41D (p.Asn41Asp) variant details
- p.Asn41Asp
- gnomAD 7-30912030-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.19
- MetaLR 0.48
- MetaSVM -0.61
- CADD 9.52
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available