N93S (p.Asn93Ser) variant of BCL10 (B-cell lymphoma/leukemia 10)
N93S (p.Asn93Ser) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
N93S (p.Asn93Ser) variant details
- p.Asn93Ser
- rs1660347136
- UniProt VAR 013217
- gnomAD rs1660347136
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- MetaLR 0.02
- MetaSVM -1.06
- CADD 18.80
- SIFT 0.16
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Absence of BCL10 mutations in human malignant mesothelioma. (PMID 10380921)