G6V (p.Gly6Val) variant of BCR (P11274)
G6V (p.Gly6Val) in BCR (P11274) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- gnomAD 22-23180977-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.41
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available