R40E (p.Arg40Glu) variant of AMH (Anti-Muellerian hormone)
R40E (p.Arg40Glu) in AMH (Anti-Muellerian hormone) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R40E (p.Arg40Glu) variant details
- p.Arg40Glu
- gnomAD 19-2249448-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.211
- CADD 3.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available