K8E (p.Lys8Glu) variant of ESR1 (Estrogen receptor)
K8E (p.Lys8Glu) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
K8E (p.Lys8Glu) variant details
- p.Lys8Glu
- gnomAD 6-151807934-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.62
- MetaLR 0.83
- MetaSVM 0.72
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available