S8N (p.Ser8Asn) variant of AMH (Anti-Muellerian hormone)
S8N (p.Ser8Asn) 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 0.13 / 1. The record also includes population frequency data and structural context.
S8N (p.Ser8Asn) variant details
- p.Ser8Asn
- 1000Genomes rs145122767
- ExAC rs145122767
- TOPMed rs145122767
- gnomAD rs145122767
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.19
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.39
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available