R2Q (p.Arg2Gln) variant of AMH (Anti-Muellerian hormone)
R2Q (p.Arg2Gln) in AMH (Anti-Muellerian hormone) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R2Q (p.Arg2Gln) variant details
- p.Arg2Gln
- rs767665662
- ClinGen CA9062701
- ClinVar RCV002596912
- ClinVar RCV003167439
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.19
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.70
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:TU population (allele frequency 0.05)
- 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)