L34F (p.Leu34Phe) variant of AGT (Angiotensinogen)
L34F (p.Leu34Phe) in AGT (Angiotensinogen) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L34F (p.Leu34Phe) variant details
- p.Leu34Phe
- rs41271499
- UniProt VAR 022933
- 1000Genomes rs41271499
- ESP rs41271499
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.68
- CADD 19.00
- PolyPhen-2 0.21
- SIFT 0.05
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available
- Cited in: A mutation of angiotensinogen in a patient with preeclampsia leads to altered kinetics of the renin-angiotensin system. (PMID 7744780)