A18T (p.Ala18Thr) variant of AMH (Anti-Muellerian hormone)
A18T (p.Ala18Thr) in AMH (Anti-Muellerian hormone) is a missense change. Clinical records from ClinVar, EBI, 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 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- rs749214406
- ClinGen CA9062714
- ClinVar RCV002930470
- ExAC rs749214406
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0839
- REVEL 0.09
- CADD 3.04
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 8.4e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)