M1V (p.Met1Val) variant of AQP1 (Aquaporin-1)
M1V (p.Met1Val) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs994263324
- gnomAD 7-30921704-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0764
- CADD 3.61
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available