P28A (p.Pro28Ala) variant of AGXT (P21549)
P28A (p.Pro28Ala) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P28A (p.Pro28Ala) variant details
- p.Pro28Ala
- gnomAD 2-240868947-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.76
- ESM-1b 0.44
- AlphaMissense 0.16
- CADD 22.80
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- AGXT complementation assay *2 b: score 0.0999
- Literature evidence available