M3V (p.Met3Val) variant of ESR1 (Estrogen receptor)
M3V (p.Met3Val) 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.
M3V (p.Met3Val) variant details
- p.Met3Val
- TOPMed rs912640670
- gnomAD rs912640670
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.60
- MetaLR 0.79
- MetaSVM 0.66
- CADD 23.80
- PolyPhen-2 0.96
- SIFT 0.08
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)