Q40K (p.Gln40Lys) variant of PGR (Progesterone receptor)
Q40K (p.Gln40Lys) in PGR (Progesterone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q40K (p.Gln40Lys) variant details
- p.Gln40Lys
- ESP rs372843224
- ExAC rs372843224
- TOPMed rs372843224
- gnomAD rs372843224
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.04
- CADD 17.10
- PolyPhen-2 0.18
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available