R26G (p.Arg26Gly) variant of AMH (Anti-Muellerian hormone)
R26G (p.Arg26Gly) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R26G (p.Arg26Gly) variant details
- p.Arg26Gly
- rs142456399
- ClinGen CA9062720
- ClinVar RCV001997140
- 1000Genomes rs142456399
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.13
- CADD 1.03
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TU population (allele frequency 0.05)
- Structural context available