E39D (p.Glu39Asp) variant of FSHR (P23945)
E39D (p.Glu39Asp) in FSHR (P23945) 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 0.50 / 1. The record also includes population frequency data and structural context.
E39D (p.Glu39Asp) variant details
- p.Glu39Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.52
- MetaLR 0.87
- MetaSVM 0.67
- CADD 18.40
- PolyPhen-2 0.07
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available