L44I (p.Leu44Ile) variant of FSHR (P23945)
L44I (p.Leu44Ile) 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 0.39 / 1. The record also includes population frequency data and structural context.
L44I (p.Leu44Ile) variant details
- p.Leu44Ile
- NCI-TCGA Cosmic COSV9906
- cosmic curated COSV99065
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.33
- MetaLR 0.67
- MetaSVM 0.04
- CADD 17.00
- PolyPhen-2 0.03
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available