N83I (p.Asn83Ile) variant of VCL (Vinculin)
N83I (p.Asn83Ile) in VCL (Vinculin) 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 0.37 / 1. The record also includes structural context.
N83I (p.Asn83Ile) variant details
- p.Asn83Ile
- rs1554816646
- ClinGen CA377265669
- ClinVar RCV000522035
- Ensembl rs1554816646
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- AlphaMissense 0.27
- MetaLR 0.24
- MetaSVM -0.59
- PolyPhen-2 0.99
- SIFT 0.15
- EVE 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available