G11V (p.Gly11Val) variant of ESR1 (Estrogen receptor)
G11V (p.Gly11Val) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G11V (p.Gly11Val) variant details
- p.Gly11Val
- gnomAD 6-151807944-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.69
- MetaLR 0.88
- MetaSVM 0.96
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available