H40N (p.His40Asn) variant of BCL10 (B-cell lymphoma/leukemia 10)
H40N (p.His40Asn) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and published literature.
H40N (p.His40Asn) variant details
- p.His40Asn
- gnomAD 1-85270846-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- MetaLR 0.02
- MetaSVM -1.10
- CADD 24.10
- PolyPhen-2 0.49
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available