F11L (p.Phe11Leu) variant of FSHR (P23945)
F11L (p.Phe11Leu) 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 0.21 / 1. The record also includes population frequency data and structural context.
F11L (p.Phe11Leu) variant details
- p.Phe11Leu
- rs1352532703
- NCI-TCGA Cosmic COSV5863
- cosmic curated COSV58634
- TOPMed rs1352532703
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.11
- MetaLR 0.21
- MetaSVM -0.86
- CADD 16.90
- SIFT 0.98
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available