A27V (p.Ala27Val) variant of AMH (Anti-Muellerian hormone)
A27V (p.Ala27Val) 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, published literature, and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- gnomAD 19-2249412-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.12
- CADD 5.15
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available