H43R (p.His43Arg) variant of BCL2L2 (Bcl-2-like protein 2)
H43R (p.His43Arg) in BCL2L2 (Bcl-2-like protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H43R (p.His43Arg) variant details
- p.His43Arg
- 1000Genomes rs137944195
- ESP rs137944195
- ExAC rs137944195
- TOPMed rs137944195
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.10
- CADD 23.20
- PolyPhen-2 0.58
- SIFT 0.40
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available