E34D (p.Glu34Asp) variant of FSHR (P23945)
E34D (p.Glu34Asp) 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 0.26 / 1. The record also includes population frequency data and structural context.
E34D (p.Glu34Asp) variant details
- p.Glu34Asp
- NCI-TCGA Cosmic COSV5862
- cosmic curated COSV58627
- TOPMed rs1477215586
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.28
- MetaLR 0.54
- MetaSVM -0.65
- CADD 6.58
- SIFT 0.78
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available