S3P (p.Ser3Pro) variant of AQP1 (Aquaporin-1)
S3P (p.Ser3Pro) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
S3P (p.Ser3Pro) variant details
- p.Ser3Pro
- gnomAD 7-30921638-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0701
- CADD 3.66
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available