A45V (p.Ala45Val) variant of AQP1 (Aquaporin-1)
A45V (p.Ala45Val) in AQP1 (Aquaporin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A45V (p.Ala45Val) variant details
- p.Ala45Val
- rs28362692
- ClinGen CA127494
- ClinVar RCV000019424
- ClinVar RCV002054449
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.17
- MetaLR 0.09
- MetaSVM -0.93
- CADD 10.30
- PolyPhen-2 0.01
- SIFT 0.49
- ClinVar: Benign (not provided)
- EBI: Benign (in Co(A-B+) antigen)
- UniProt: Benign (in Co(A-B+) antigen)
- Most common in the Amish population (allele frequency 0.062)
- Structural context available
- Cited in: Human red cell aquaporin CHIP. I. Molecular characterization of ABH and Colton blood group antigens. (PMID 7521882)