A18V (p.Ala18Val) variant of AMH (Anti-Muellerian hormone)
A18V (p.Ala18Val) in AMH (Anti-Muellerian hormone) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- rs61736578
- ClinGen CA9062715
- ClinVar RCV002182493
- 1000Genomes rs61736578
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.16
- CADD 9.11
- PolyPhen-2 0.09
- SIFT 0.17
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available