K6N (p.Lys6Asn) variant of AQP1 (Aquaporin-1)
K6N (p.Lys6Asn) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
K6N (p.Lys6Asn) variant details
- p.Lys6Asn
- gnomAD 7-30911927-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.47
- MetaLR 0.52
- MetaSVM -0.04
- CADD 20.80
- PolyPhen-2 0.38
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available