E41K (p.Glu41Lys) variant of AMH (Anti-Muellerian hormone)
E41K (p.Glu41Lys) in AMH (Anti-Muellerian hormone) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E41K (p.Glu41Lys) variant details
- p.Glu41Lys
- rs1376893013
- NCI-TCGA Cosmic COSV9967
- gnomAD rs1376893013
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.11
- CADD 6.06
- PolyPhen-2 0.00
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available