P38Q (p.Pro38Gln) variant of AQP1 (Aquaporin-1)
P38Q (p.Pro38Gln) in AQP1 (Aquaporin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in Co(A-B-) antigen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P38Q (p.Pro38Gln) variant details
- p.Pro38Gln
- ExAC rs104894004
- TOPMed rs104894004
- gnomAD rs104894004
- Pathogenic
- in Co(A-B-) antigen
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.56
- MetaLR 0.54
- MetaSVM -0.16
- CADD 24.40
- PolyPhen-2 0.95
- SIFT 0.09
- EBI: Pathogenic (in Co(A-B-) antigen)
- UniProt: Pathogenic (in Co(A-B-) antigen)
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available