R28C (p.Arg28Cys) variant of ESR1 (Estrogen receptor)
R28C (p.Arg28Cys) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R28C (p.Arg28Cys) variant details
- p.Arg28Cys
- gnomAD rs1341033484
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.60
- MetaLR 0.79
- MetaSVM 0.56
- CADD 26.10
- PolyPhen-2 0.77
- SIFT 0.32
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available