P34S (p.Pro34Ser) variant of AGXT (P21549)
P34S (p.Pro34Ser) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P34S (p.Pro34Ser) variant details
- p.Pro34Ser
- rs758388293
- ClinGen CA2208977
- ClinVar RCV002686152
- ExAC rs758388293
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.71
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.652