D34N (p.Asp34Asn) variant of BCL2 (Apoptosis regulator Bcl-2)
D34N (p.Asp34Asn) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D34N (p.Asp34Asn) variant details
- p.Asp34Asn
- cosmic curated COSV61389
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.06
- MetaLR 0.01
- MetaSVM -0.94
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available