P16L (p.Pro16Leu) variant of MS4A1 (B-lymphocyte antigen CD20)
P16L (p.Pro16Leu) 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 0.28 / 1. The record also includes population frequency data and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- rs768892705
- ClinGen CA222761232
- cosmic curated COSV10524
- ClinVar RCV002584461
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.10
- MetaLR 0.09
- MetaSVM -0.95
- CADD 22.00
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available