L6P (p.Leu6Pro) variant of AGXT (P21549)
L6P (p.Leu6Pro) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L6P (p.Leu6Pro) variant details
- p.Leu6Pro
- gnomAD 2-240868882-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 21.80
- PolyPhen-2 0.13
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- AGXT complementation assay *1 b: score 0.999
- Literature evidence available