R37W (p.Arg37Trp) variant of ESR1 (Estrogen receptor)
R37W (p.Arg37Trp) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R37W (p.Arg37Trp) variant details
- p.Arg37Trp
- Ensembl rs2128155727
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.59
- MetaLR 0.73
- MetaSVM 0.31
- CADD 26.60
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available