P38L (p.Pro38Leu) variant of AQP1 (Aquaporin-1)
P38L (p.Pro38Leu) in AQP1 (Aquaporin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Colton-null phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- rs104894004
- ClinGen CA127496
- ClinVar RCV000019425
- UniProt VAR 013279
- Pathogenic
- Colton-null phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.67
- MetaLR 0.54
- MetaSVM 0.19
- CADD 24.90
- PolyPhen-2 0.89
- SIFT 0.07
- ClinVar: Pathogenic (Colton-null phenotype)
- EBI: Pathogenic (in Co(A-B-) antigen)
- UniProt: Pathogenic (in Co(A-B-) antigen)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Mutations in aquaporin-1 in phenotypically normal humans without functional CHIP water channels. (PMID 7521540)