R28S (p.Arg28Ser) variant of ESR1 (Estrogen receptor)
R28S (p.Arg28Ser) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R28S (p.Arg28Ser) variant details
- p.Arg28Ser
- gnomAD 6-151807994-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.41
- MetaLR 0.71
- MetaSVM 0.26
- CADD 23.90
- PolyPhen-2 0.54
- SIFT 0.66
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available