P34L (p.Pro34Leu) variant of ESR1 (Estrogen receptor)
P34L (p.Pro34Leu) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- TOPMed rs1368974256
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.73
- MetaLR 0.84
- MetaSVM 0.85
- CADD 28.10
- PolyPhen-2 0.85
- SIFT 0.04
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available