I6S (p.Ile6Ser) variant of MEF2C (Q06413)
I6S (p.Ile6Ser) in MEF2C (Q06413) 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 0.90 / 1. The record also includes structural context.
I6S (p.Ile6Ser) variant details
- p.Ile6Ser
- rs2153222922
- ClinGen CA360425331
- ClinVar RCV003323052
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 1.04
- PolyPhen-2 0.88
- SIFT 0.00
- EVE 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available