M49L (p.Met49Leu) variant of AGXT (P21549)
M49L (p.Met49Leu) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M49L (p.Met49Leu) variant details
- p.Met49Leu
- rs74205173
- ClinGen CA2208988
- ClinVar RCV000665056
- ClinVar RCV000885301
- Benign/Likely benign
- not specified; not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 0.72
- ClinVar: Benign/Likely benign (not specified; not provided; Primary hyperoxaluria, type I)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- AGXT complementation assay *1 B: score 1.11
- Cited in: Primary Hyperoxaluria Type 1. (PMID 20301460)
- Cited in: Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. (PMID 22547750)