M17I (p.Met17Ile) variant of MS4A1 (B-lymphocyte antigen CD20)
M17I (p.Met17Ile) in MS4A1 (B-lymphocyte antigen CD20) 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 0.32 / 1. The record also includes population frequency data and structural context.
M17I (p.Met17Ile) variant details
- p.Met17Ile
- rs752311016
- ClinGen CA6024857
- cosmic curated COSV61941
- ClinVar RCV003550295
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- AlphaMissense 0.15
- MetaLR 0.04
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.59
- MutPred 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available