T41I (p.Thr41Ile) variant of PGR (Progesterone receptor)
T41I (p.Thr41Ile) in PGR (Progesterone receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
T41I (p.Thr41Ile) variant details
- p.Thr41Ile
- rs577094242
- ClinGen CA228195713
- cosmic curated COSV54796
- ClinVar RCV004146391
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.03
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00018)
- Structural context available