L8S (p.Leu8Ser) variant of FSHR (P23945)
L8S (p.Leu8Ser) 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 0.30 / 1. The record also includes population frequency data and structural context.
L8S (p.Leu8Ser) variant details
- p.Leu8Ser
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10043
- TOPMed rs1673171489
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.27
- MetaLR 0.27
- MetaSVM -0.86
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available