A50T (p.Ala50Thr) variant of PGR (Progesterone receptor)
A50T (p.Ala50Thr) in PGR (Progesterone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- rs11571143
- UniProt VAR 019221
- 1000Genomes rs11571143
- ExAC rs11571143
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.04
- CADD 8.51
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the HGDP:MAKRANI population (allele frequency 0.091)
- Structural context available
- Literature evidence available