I103V (p.Ile103Val) variant of COMP (P49747)
I103V (p.Ile103Val) in COMP (P49747) 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 0.22 / 1. The record also includes structural context.
I103V (p.Ile103Val) variant details
- p.Ile103Val
- rs2055200537
- ClinGen CA404898554
- ClinVar RCV001300334
- Ensembl rs2055200537
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available