I33T (p.Ile33Thr) variant of ESR1 (Estrogen receptor)
I33T (p.Ile33Thr) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
I33T (p.Ile33Thr) variant details
- p.Ile33Thr
- Ensembl rs2128155658
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.44
- MetaLR 0.70
- MetaSVM 0.47
- CADD 23.40
- PolyPhen-2 0.17
- SIFT 0.07
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available