E105K (p.Glu105Lys) variant of PGR (Progesterone receptor)
E105K (p.Glu105Lys) in PGR (Progesterone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E105K (p.Glu105Lys) variant details
- p.Glu105Lys
- TOPMed rs1224677146
- gnomAD rs1224677146
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.03
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available