A45E (p.Ala45Glu) variant of AQP1 (Aquaporin-1)
A45E (p.Ala45Glu) in AQP1 (Aquaporin-1) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in Co(A-B+) antigen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A45E (p.Ala45Glu) variant details
- p.Ala45Glu
- 1000Genomes rs28362692
- ESP rs28362692
- ExAC rs28362692
- TOPMed rs28362692
- Benign
- in Co(A-B+) antigen
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.12
- MetaLR 0.32
- MetaSVM -0.81
- CADD 14.60
- PolyPhen-2 0.04
- SIFT 0.64
- EBI: Benign (in Co(A-B+) antigen)
- UniProt: Benign (in Co(A-B+) antigen)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available