N42K (p.Asn42Lys) variant of AQP1 (Aquaporin-1)
N42K (p.Asn42Lys) in AQP1 (Aquaporin-1) 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, published literature, and structural context.
N42K (p.Asn42Lys) variant details
- p.Asn42Lys
- gnomAD 7-30912035-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.40
- MetaLR 0.72
- MetaSVM 0.41
- CADD 22.60
- PolyPhen-2 0.58
- SIFT 0.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available