P38S (p.Pro38Ser) variant of AQP1 (Aquaporin-1)
P38S (p.Pro38Ser) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P38S (p.Pro38Ser) variant details
- p.Pro38Ser
- Ensembl rs1791177926
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.38
- MetaLR 0.37
- MetaSVM -0.45
- CADD 22.80
- PolyPhen-2 0.10
- SIFT 0.13
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available