M3T (p.Met3Thr) variant of ESR1 (Estrogen receptor)
M3T (p.Met3Thr) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
M3T (p.Met3Thr) variant details
- p.Met3Thr
- 1000Genomes rs559940774
- ExAC rs559940774
- TOPMed rs559940774
- gnomAD rs559940774
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.63
- MetaLR 0.84
- MetaSVM 0.81
- CADD 26.20
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0011)