S14A (p.Ser14Ala) variant of AMH (Anti-Muellerian hormone)
S14A (p.Ser14Ala) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
S14A (p.Ser14Ala) variant details
- p.Ser14Ala
- ExAC rs747624096
- gnomAD rs747624096
- Missense
- Variant Prioritization Score for Impact Estimate 0.0725
- REVEL 0.07
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available