L43R (p.Leu43Arg) variant of AGXT (P21549)
L43R (p.Leu43Arg) in AGXT (P21549) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L43R (p.Leu43Arg) variant details
- p.Leu43Arg
- ExAC rs768181954
- TOPMed rs768181954
- gnomAD rs768181954
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 2.39
- PolyPhen-2 0.00
- SIFT 0.84
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.693