L4F (p.Leu4Phe) variant of FSHR (P23945)
L4F (p.Leu4Phe) 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.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- rs754449208
- NCI-TCGA Cosmic COSV5863
- cosmic curated COSV58635
- ExAC rs754449208
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.16
- MetaLR 0.20
- MetaSVM -0.89
- CADD 13.70
- PolyPhen-2 0.02
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available