D48G (p.Asp48Gly) variant of AQP1 (Aquaporin-1)
D48G (p.Asp48Gly) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
D48G (p.Asp48Gly) variant details
- p.Asp48Gly
- gnomAD rs1314294921
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.75
- MetaLR 0.61
- MetaSVM -0.02
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available