L14P (p.Leu14Pro) variant of ESR1 (Estrogen receptor)
L14P (p.Leu14Pro) 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.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- ESP rs369520220
- ExAC rs369520220
- TOPMed rs369520220
- gnomAD rs369520220
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.61
- MetaLR 0.87
- MetaSVM 0.59
- CADD 26.00
- PolyPhen-2 0.96
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available