I51T (p.Ile51Thr) variant of PGR (Progesterone receptor)
I51T (p.Ile51Thr) in PGR (Progesterone receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
I51T (p.Ile51Thr) variant details
- p.Ile51Thr
- rs113635284
- ClinGen CA6243958
- ClinVar RCV000967235
- 1000Genomes rs113635284
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.15
- CADD 15.00
- PolyPhen-2 0.14
- SIFT 0.00
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available