P40H (p.Pro40His) variant of MS4A1 (B-lymphocyte antigen CD20)
P40H (p.Pro40His) 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 0.40 / 1. The record also includes population frequency data and structural context.
P40H (p.Pro40His) variant details
- p.Pro40His
- rs773222759
- ClinGen CA6024868
- ClinVar RCV002018844
- ExAC rs773222759
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.25
- MetaLR 0.14
- MetaSVM -0.84
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available