G6D (p.Gly6Asp) variant of BCR (P11274)
G6D (p.Gly6Asp) in BCR (P11274) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G6D (p.Gly6Asp) variant details
- p.Gly6Asp
- gnomAD 22-23180977-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.29
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available