L23V (p.Leu23Val) variant of ESR1 (Estrogen receptor)
L23V (p.Leu23Val) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
L23V (p.Leu23Val) variant details
- p.Leu23Val
- TOPMed rs1399427744
- gnomAD rs1399427744
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.58
- MetaLR 0.90
- MetaSVM 1.00
- CADD 24.90
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available