Q75K (p.Gln75Lys) variant of PGR (Progesterone receptor)
Q75K (p.Gln75Lys) in PGR (Progesterone receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
Q75K (p.Gln75Lys) variant details
- p.Gln75Lys
- rs147067970
- ClinGen CA6243945
- cosmic curated COSV54797
- ClinVar RCV000881915
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.05
- CADD 9.99
- PolyPhen-2 0.05
- SIFT 0.14
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available