N42D (p.Asn42Asp) variant of AQP1 (Aquaporin-1)
N42D (p.Asn42Asp) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
N42D (p.Asn42Asp) variant details
- p.Asn42Asp
- gnomAD 7-30912033-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.34
- MetaLR 0.59
- MetaSVM -0.07
- CADD 24.30
- PolyPhen-2 0.43
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available