F91S (p.Phe91Ser) variant of FMR1 (Q06787)
F91S (p.Phe91Ser) in FMR1 (Q06787) 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 0.56 / 1. The record also includes structural context.
F91S (p.Phe91Ser) variant details
- p.Phe91Ser
- rs2124505038
- ClinGen CA414436085
- ClinVar RCV001786130
- Ensembl rs2124505038
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 1.00
- MetaLR 0.40
- MetaSVM -0.14
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.94
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available