L37F (p.Leu37Phe) variant of AMH (Anti-Muellerian hormone)
L37F (p.Leu37Phe) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L37F (p.Leu37Phe) variant details
- p.Leu37Phe
- 1000Genomes rs201699789
- ExAC rs201699789
- TOPMed rs201699789
- gnomAD rs201699789
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.39
- CADD 19.40
- PolyPhen-2 0.88
- SIFT 0.05
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available