D3A (p.Asp3Ala) variant of AMH (Anti-Muellerian hormone)
D3A (p.Asp3Ala) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
D3A (p.Asp3Ala) variant details
- p.Asp3Ala
- ExAC rs752774158
- gnomAD rs752774158
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.18
- CADD 0.43
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available