I18T (p.Ile18Thr) variant of ESR1 (Estrogen receptor)
I18T (p.Ile18Thr) 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.
I18T (p.Ile18Thr) variant details
- p.Ile18Thr
- gnomAD 6-151807965-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.68
- MetaLR 0.86
- MetaSVM 0.92
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available