D34Y (p.Asp34Tyr) variant of BCL2 (Apoptosis regulator Bcl-2)
D34Y (p.Asp34Tyr) in BCL2 (Apoptosis regulator Bcl-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.
D34Y (p.Asp34Tyr) variant details
- p.Asp34Tyr
- cosmic curated COSV10886
- 1000Genomes rs540701354
- TOPMed rs540701354
- gnomAD rs540701354
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.17
- MetaLR 0.02
- MetaSVM -0.97
- CADD 22.40
- PolyPhen-2 0.53
- SIFT 0.00
- Most common in the HGDP:MAYA population (allele frequency 0.026)
- Structural context available