V14E (p.Val14Glu) variant of AQP1 (Aquaporin-1)
V14E (p.Val14Glu) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
V14E (p.Val14Glu) variant details
- p.Val14Glu
- rs1791502261
- gnomAD 7-30921636-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0576
- CADD 2.13
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available