T4N (p.Thr4Asn) variant of ESR1 (Estrogen receptor)
T4N (p.Thr4Asn) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
T4N (p.Thr4Asn) variant details
- p.Thr4Asn
- Ensembl rs2128155194
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.46
- MetaLR 0.82
- MetaSVM 0.75
- CADD 24.90
- PolyPhen-2 0.72
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 5e-05)