A33V (p.Ala33Val) variant of PGR (Progesterone receptor)
A33V (p.Ala33Val) in PGR (Progesterone receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- rs779538755
- ExAC rs779538755
- gnomAD rs779538755
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.02
- CADD 10.40
- PolyPhen-2 0.06
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available