L39M (p.Leu39Met) variant of ESR1 (Estrogen receptor)
L39M (p.Leu39Met) in ESR1 (Estrogen receptor) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L39M (p.Leu39Met) variant details
- p.Leu39Met
- ExAC rs781772511
- gnomAD rs781772511
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.48
- MetaLR 0.83
- MetaSVM 0.66
- CADD 26.10
- PolyPhen-2 0.84
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available