L43P (p.Leu43Pro) variant of AGXT (P21549)
L43P (p.Leu43Pro) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- gnomAD 2-240868993-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.50
- ESM-1b 1.00
- AlphaMissense 0.51
- CADD 13.80
- PolyPhen-2 0.48
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- AGXT complementation assay *1 B: score 0.693
- Literature evidence available