A48V (p.Ala48Val) variant of AGT (Angiotensinogen)
A48V (p.Ala48Val) in AGT (Angiotensinogen) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- gnomAD rs1013047470
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.20
- CADD 8.78
- PolyPhen-2 0.00
- SIFT 0.87
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available