P29L (p.Pro29Leu) variant of MS4A1 (B-lymphocyte antigen CD20)
P29L (p.Pro29Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- rs2135197301
- ClinGen CA380597812
- ClinVar RCV004170981
- Ensembl rs2135197301
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0599
- REVEL 0.01
- MetaLR 0.03
- MetaSVM -1.04
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available