L43Q (p.Leu43Gln) variant of AGXT (P21549)
L43Q (p.Leu43Gln) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L43Q (p.Leu43Gln) variant details
- p.Leu43Gln
- rs768181954
- ClinGen CA2208983
- ClinVar RCV002076010
- ExAC rs768181954
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.22
- ESM-1b 0.12
- AlphaMissense 0.08
- CADD 5.07
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.0057)
- Structural context available
- AGXT complementation assay *1 B: score 0.693