S3C (p.Ser3Cys) variant of AGXT (P21549)
S3C (p.Ser3Cys) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S3C (p.Ser3Cys) variant details
- p.Ser3Cys
- gnomAD 2-240868873-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 19.20
- PolyPhen-2 0.32
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- AGXT complementation assay *1 b: score 1.27
- Literature evidence available