P17L (p.Pro17Leu) variant of AGXT (P21549)
P17L (p.Pro17Leu) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P17L (p.Pro17Leu) variant details
- p.Pro17Leu
- ExAC rs761064900
- TOPMed rs761064900
- gnomAD rs761064900
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.23
- CADD 24.20
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- AGXT complementation assay *1 B: score 1.1