R6W (p.Arg6Trp) variant of BCL2L1 (Bcl-2-like protein 1)
R6W (p.Arg6Trp) in BCL2L1 (Bcl-2-like protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R6W (p.Arg6Trp) variant details
- p.Arg6Trp
- ESP rs373119323
- ExAC rs373119323
- gnomAD rs373119323
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.27
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the East Asian population (allele frequency 5.2e-05)
- Structural context available