L15P (p.Leu15Pro) variant of ESR1 (Estrogen receptor)
L15P (p.Leu15Pro) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
L15P (p.Leu15Pro) variant details
- p.Leu15Pro
- ExAC rs760503206
- gnomAD rs760503206
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.81
- MetaLR 0.88
- MetaSVM 0.97
- CADD 28.10
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available