G20V (p.Gly20Val) variant of ESR1 (Estrogen receptor)
G20V (p.Gly20Val) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G20V (p.Gly20Val) variant details
- p.Gly20Val
- Ensembl rs1778148966
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.42
- MetaLR 0.80
- MetaSVM 0.49
- CADD 19.50
- PolyPhen-2 0.23
- SIFT 0.23
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available