P17S (p.Pro17Ser) variant of AGXT (P21549)
P17S (p.Pro17Ser) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- ExAC rs773611094
- gnomAD rs773611094
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 23.50
- PolyPhen-2 0.46
- SIFT 0.02
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- AGXT complementation assay *1 B: score 1.1