L24V (p.Leu24Val) variant of AGXT (P21549)
L24V (p.Leu24Val) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L24V (p.Leu24Val) variant details
- p.Leu24Val
- gnomAD 2-240868935-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 23.20
- PolyPhen-2 0.47
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- AGXT complementation assay *1 B: score 0.941
- Literature evidence available