P29R (p.Pro29Arg) variant of ESR1 (Estrogen receptor)
P29R (p.Pro29Arg) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
P29R (p.Pro29Arg) variant details
- p.Pro29Arg
- TOPMed rs1778151918
- gnomAD rs1778151918
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.66
- MetaLR 0.78
- MetaSVM 0.69
- CADD 23.40
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available