E55G (p.Glu55Gly) variant of CSRP3 (P50461)
E55G (p.Glu55Gly) in CSRP3 (P50461) 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 0.80 / 1. The record also includes structural context.
E55G (p.Glu55Gly) variant details
- p.Glu55Gly
- rs267606753
- ClinGen CA218633635
- ClinVar RCV001754944
- Ensembl rs267606753
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- AlphaMissense 0.87
- MetaLR 0.90
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.44
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available