T2A (p.Thr2Ala) variant of ESR1 (Estrogen receptor)
T2A (p.Thr2Ala) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
T2A (p.Thr2Ala) variant details
- p.Thr2Ala
- Ensembl rs2128155148
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.41
- MetaLR 0.74
- MetaSVM 0.53
- CADD 24.10
- PolyPhen-2 0.98
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)