L45F (p.Leu45Phe) variant of PGR (Progesterone receptor)
L45F (p.Leu45Phe) in PGR (Progesterone receptor) 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 0.09 / 1. The record also includes population frequency data and structural context.
L45F (p.Leu45Phe) variant details
- p.Leu45Phe
- NCI-TCGA Cosmic COSV5480
- cosmic curated COSV54806
- NCI-TCGA Cosmic COSV9967
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0874
- REVEL 0.02
- CADD 12.50
- PolyPhen-2 0.09
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available