S48N (p.Ser48Asn) variant of BCL10 (B-cell lymphoma/leukemia 10)
S48N (p.Ser48Asn) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
S48N (p.Ser48Asn) variant details
- p.Ser48Asn
- gnomAD rs1383082214
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- MetaLR 0.01
- MetaSVM -1.00
- CADD 21.20
- PolyPhen-2 0.02
- SIFT 0.22
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)