D31N (p.Asp31Asn) variant of BCL2 (Apoptosis regulator Bcl-2)
D31N (p.Asp31Asn) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
D31N (p.Asp31Asn) variant details
- p.Asp31Asn
- rs766508625
- NCI-TCGA Cosmic COSV6137
- NCI-TCGA Cosmic COSV6138
- cosmic curated COSV61383
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.08
- MetaLR 0.01
- MetaSVM -0.95
- CADD 22.30
- PolyPhen-2 0.49
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available