R78C (p.Arg78Cys) variant of BCL2L2 (Bcl-2-like protein 2)
R78C (p.Arg78Cys) in BCL2L2 (Bcl-2-like protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R78C (p.Arg78Cys) variant details
- p.Arg78Cys
- 1000Genomes rs143454020
- ESP rs143454020
- ExAC rs143454020
- TOPMed rs143454020
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.10
- CADD 26.60
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available