S8T (p.Ser8Thr) variant of AMH (Anti-Muellerian hormone)
S8T (p.Ser8Thr) in AMH (Anti-Muellerian hormone) 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 0.14 / 1. The record also includes population frequency data and structural context.
S8T (p.Ser8Thr) variant details
- p.Ser8Thr
- rs145122767
- ClinGen CA9062706
- ClinVar RCV003885069
- 1000Genomes rs145122767
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.20
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.48
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available