P13L (p.Pro13Leu) variant of MS4A1 (B-lymphocyte antigen CD20)
P13L (p.Pro13Leu) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- rs143807889
- ClinGen CA6024851
- cosmic curated COSV61942
- ClinVar RCV001969733
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.08
- MetaLR 0.02
- MetaSVM -1.09
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available