M1T (p.Met1Thr) variant of AQP1 (Aquaporin-1)
M1T (p.Met1Thr) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- gnomAD 7-30921599-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- CADD 7.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available