S49L (p.Ser49Leu) variant of PGR (Progesterone receptor)
S49L (p.Ser49Leu) 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.
S49L (p.Ser49Leu) variant details
- p.Ser49Leu
- rs1349242903
- gnomAD rs1349242903
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.15
- CADD 20.50
- PolyPhen-2 0.39
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available