P29L (p.Pro29Leu) variant of ESR1 (Estrogen receptor)
P29L (p.Pro29Leu) in ESR1 (Estrogen receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- NCI-TCGA Cosmic COSV5278
- TOPMed rs1778151918
- gnomAD rs1778151918
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.56
- MetaLR 0.74
- MetaSVM 0.56
- CADD 22.50
- PolyPhen-2 0.20
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available