P29Q (p.Pro29Gln) variant of ESR1 (Estrogen receptor)
P29Q (p.Pro29Gln) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P29Q (p.Pro29Gln) variant details
- p.Pro29Gln
- cosmic curated COSV52786
- TOPMed rs1778151918
- gnomAD rs1778151918
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.32
- MetaLR 0.59
- MetaSVM 0.14
- CADD 21.20
- PolyPhen-2 0.04
- SIFT 0.25
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available