G40R (p.Gly40Arg) variant of BCL2L1 (Bcl-2-like protein 1)
G40R (p.Gly40Arg) in BCL2L1 (Bcl-2-like protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G40R (p.Gly40Arg) variant details
- p.Gly40Arg
- ExAC rs774465563
- TOPMed rs774465563
- gnomAD rs774465563
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.07
- CADD 21.80
- PolyPhen-2 0.30
- SIFT 0.47
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available