I96V (p.Ile96Val) variant of BCL10 (B-cell lymphoma/leukemia 10)
I96V (p.Ile96Val) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Immunodeficiency 37. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
I96V (p.Ile96Val) variant details
- p.Ile96Val
- rs1660346727
- ClinGen CA1139656183
- ClinVar RCV001202698
- Ensembl rs1660346727
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency 37
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- MetaLR 0.02
- MetaSVM -1.06
- CADD 22.90
- PolyPhen-2 0.21
- SIFT 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency 37)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00022)
- Structural context available