S8I (p.Ser8Ile) variant of AMH (Anti-Muellerian hormone)
S8I (p.Ser8Ile) in AMH (Anti-Muellerian hormone) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S8I (p.Ser8Ile) variant details
- p.Ser8Ile
- 1000Genomes rs145122767
- ExAC rs145122767
- TOPMed rs145122767
- gnomAD rs145122767
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.23
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.42
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available