S3G (p.Ser3Gly) variant of AQP1 (Aquaporin-1)
S3G (p.Ser3Gly) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S3G (p.Ser3Gly) variant details
- p.Ser3Gly
- gnomAD 7-30911916-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.16
- MetaLR 0.40
- MetaSVM -0.47
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available