T34I (p.Thr34Ile) variant of AMH (Anti-Muellerian hormone)
T34I (p.Thr34Ile) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T34I (p.Thr34Ile) variant details
- p.Thr34Ile
- gnomAD 19-2249433-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.20
- CADD 7.43
- PolyPhen-2 0.22
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available