P30S (p.Pro30Ser) variant of AGXT (P21549)
P30S (p.Pro30Ser) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- gnomAD 2-240868953-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.66
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- AGXT complementation assay *2 b: score 0.0092
- Literature evidence available