K36E (p.Lys36Glu) variant of AQP1 (Aquaporin-1)
K36E (p.Lys36Glu) 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.
K36E (p.Lys36Glu) variant details
- p.Lys36Glu
- Ensembl rs1485138944
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.31
- MetaLR 0.49
- MetaSVM -0.76
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available