P17T (p.Pro17Thr) variant of AGXT (P21549)
P17T (p.Pro17Thr) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P17T (p.Pro17Thr) variant details
- p.Pro17Thr
- ExAC rs773611094
- gnomAD rs773611094
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.68
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 23.70
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- AGXT complementation assay *1 B: score 1.1