L35P (p.Leu35Pro) variant of ESR1 (Estrogen receptor)
L35P (p.Leu35Pro) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
L35P (p.Leu35Pro) variant details
- p.Leu35Pro
- TOPMed rs1391419251
- gnomAD rs1391419251
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.55
- MetaLR 0.81
- MetaSVM 0.64
- CADD 26.60
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available