S10F (p.Ser10Phe) variant of ESR1 (Estrogen receptor)
S10F (p.Ser10Phe) in ESR1 (Estrogen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
S10F (p.Ser10Phe) variant details
- p.Ser10Phe
- rs1778145541
- ClinGen CA366211456
- ClinVar RCV003313662
- Ensembl rs1778145541
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- AlphaMissense 0.55
- MetaLR 0.78
- MetaSVM 0.65
- PolyPhen-2 0.95
- SIFT 0.00
- MutPred 0.62
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available