M49V (p.Met49Val) variant of AGXT (P21549)
M49V (p.Met49Val) in AGXT (P21549) 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 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M49V (p.Met49Val) variant details
- p.Met49Val
- 1000Genomes rs74205173
- ExAC rs74205173
- TOPMed rs74205173
- gnomAD rs74205173
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 19.20
- PolyPhen-2 0.22
- SIFT 0.02
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- AGXT complementation assay *1 B: score 1.11