V50M (p.Val50Met) variant of AQP1 (Aquaporin-1)
V50M (p.Val50Met) in AQP1 (Aquaporin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
V50M (p.Val50Met) variant details
- p.Val50Met
- rs200496523
- ClinGen CA4208053
- ClinVar RCV004212929
- 1000Genomes rs200496523
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.75
- MetaLR 0.89
- MetaSVM 0.96
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available