F91L (p.Phe91Leu) variant of FSHR (P23945)
F91L (p.Phe91Leu) 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 0.71 / 1. The record also includes population frequency data and structural context.
F91L (p.Phe91Leu) variant details
- p.Phe91Leu
- gnomAD rs1667636136
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10043
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.77
- MetaLR 0.68
- MetaSVM 0.49
- CADD 26.20
- PolyPhen-2 0.61
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available