P10L (p.Pro10Leu) variant of AGXT (P21549)
P10L (p.Pro10Leu) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- ExAC rs748087765
- gnomAD rs748087765
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.44
- ESM-1b 1.00
- AlphaMissense 0.23
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- AGXT complementation assay *1 B: score 1.15