A50D (p.Ala50Asp) variant of PGR (Progesterone receptor)
A50D (p.Ala50Asp) 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 0.22 / 1. The record also includes population frequency data and structural context.
A50D (p.Ala50Asp) variant details
- p.Ala50Asp
- rs771472590
- ClinGen CA6243959
- ClinVar RCV004498764
- ExAC rs771472590
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.11
- CADD 17.10
- PolyPhen-2 0.43
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in dbSNP:rs11571143)
- UniProt: Uncertain significance (in dbSNP:rs11571143)
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available