L11V (p.Leu11Val) variant of AMH (Anti-Muellerian hormone)
L11V (p.Leu11Val) in AMH (Anti-Muellerian hormone) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- ExAC rs779229624
- TOPMed rs779229624
- gnomAD rs779229624
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.24
- CADD 19.20
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available