M38V (p.Met38Val) variant of AGXT (P21549)
M38V (p.Met38Val) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M38V (p.Met38Val) variant details
- p.Met38Val
- gnomAD 2-240868977-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.14
- ESM-1b 0.15
- AlphaMissense 0.08
- CADD 5.18
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 4e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.86
- Literature evidence available