K17N (p.Lys17Asn) variant of BCL2 (Apoptosis regulator Bcl-2)
K17N (p.Lys17Asn) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Neoplasm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
K17N (p.Lys17Asn) variant details
- p.Lys17Asn
- cosmic curated COSV61372
- cosmic curated COSV61388
- 1000Genomes rs565741123
- ExAC rs565741123
- Uncertain significance
- Neoplasm
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.11
- MetaLR 0.01
- MetaSVM -0.92
- CADD 18.90
- PolyPhen-2 0.39
- SIFT 0.14
- ClinVar: Uncertain significance (Neoplasm)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available