D30N (p.Asp30Asn) variant of BCR (P11274)
D30N (p.Asp30Asn) in BCR (P11274) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D30N (p.Asp30Asn) variant details
- p.Asp30Asn
- 1000Genomes rs557214840
- ExAC rs557214840
- gnomAD rs557214840
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.16
- CADD 23.80
- PolyPhen-2 0.50
- SIFT 0.11
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available