A31T (p.Ala31Thr) variant of AMH (Anti-Muellerian hormone)
A31T (p.Ala31Thr) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- ExAC rs766829297
- TOPMed rs766829297
- gnomAD rs766829297
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.09
- CADD 13.40
- PolyPhen-2 0.04
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.1e-05)