D34H (p.Asp34His) variant of BCL2 (Apoptosis regulator Bcl-2)
D34H (p.Asp34His) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D34H (p.Asp34His) variant details
- p.Asp34His
- cosmic curated COSV61379
- 1000Genomes rs540701354
- TOPMed rs540701354
- gnomAD rs540701354
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.12
- MetaLR 0.01
- MetaSVM -0.95
- CADD 18.60
- PolyPhen-2 0.32
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available