G40S (p.Gly40Ser) variant of ESR1 (Estrogen receptor)
G40S (p.Gly40Ser) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and published literature.
G40S (p.Gly40Ser) variant details
- p.Gly40Ser
- gnomAD 6-151808030-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.18
- MetaLR 0.23
- MetaSVM -0.58
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.79
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Literature evidence available