R28P (p.Arg28Pro) variant of ESR1 (Estrogen receptor)
R28P (p.Arg28Pro) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R28P (p.Arg28Pro) variant details
- p.Arg28Pro
- Ensembl rs2128155569
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.55
- MetaLR 0.65
- MetaSVM 0.04
- CADD 24.70
- PolyPhen-2 0.81
- SIFT 0.55
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available