S20F (p.Ser20Phe) variant of PGR (Progesterone receptor)
S20F (p.Ser20Phe) 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 0.35 / 1. The record also includes population frequency data and structural context.
S20F (p.Ser20Phe) variant details
- p.Ser20Phe
- rs774399131
- NCI-TCGA Cosmic COSV5481
- cosmic curated COSV54810
- ExAC rs774399131
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.16
- CADD 25.50
- PolyPhen-2 0.94
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available