I64V (p.Ile64Val) variant of MS4A1 (B-lymphocyte antigen CD20)
I64V (p.Ile64Val) 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 0.12 / 1. The record also includes population frequency data and structural context.
I64V (p.Ile64Val) variant details
- p.Ile64Val
- rs2135198098
- ClinGen CA380598486
- ClinVar RCV002019708
- Ensembl rs2135198098
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.08
- MetaLR 0.01
- MetaSVM -0.97
- CADD 12.10
- PolyPhen-2 0.13
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available