K6E (p.Lys6Glu) variant of AQP1 (Aquaporin-1)
K6E (p.Lys6Glu) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
K6E (p.Lys6Glu) variant details
- p.Lys6Glu
- gnomAD 7-30911925-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.58
- MetaLR 0.49
- MetaSVM -0.17
- CADD 22.90
- PolyPhen-2 0.09
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available