I60S (p.Ile60Ser) variant of AGXT (P21549)
I60S (p.Ile60Ser) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I60S (p.Ile60Ser) variant details
- p.Ile60Ser
- gnomAD 2-240869183-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.71
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.683
- Literature evidence available