L35M (p.Leu35Met) variant of ESR1 (Estrogen receptor)
L35M (p.Leu35Met) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L35M (p.Leu35Met) variant details
- p.Leu35Met
- cosmic curated COSV99239
- ExAC rs201899558
- TOPMed rs201899558
- gnomAD rs201899558
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.40
- MetaLR 0.73
- MetaSVM 0.33
- CADD 22.80
- PolyPhen-2 0.17
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available