R40Q (p.Arg40Gln) variant of AMH (Anti-Muellerian hormone)
R40Q (p.Arg40Gln) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R40Q (p.Arg40Gln) variant details
- p.Arg40Gln
- 1000Genomes rs576266262
- ExAC rs576266262
- TOPMed rs576266262
- gnomAD rs576266262
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.14
- CADD 0.26
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available