N41K (p.Asn41Lys) variant of AQP1 (Aquaporin-1)
N41K (p.Asn41Lys) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
N41K (p.Asn41Lys) variant details
- p.Asn41Lys
- gnomAD rs1473387576
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.22
- MetaLR 0.57
- MetaSVM -0.47
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available