N47I (p.Asn47Ile) variant of BCL2L11 (Bcl-2-like protein 11)
N47I (p.Asn47Ile) in BCL2L11 (Bcl-2-like protein 11) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
N47I (p.Asn47Ile) variant details
- p.Asn47Ile
- 1000Genomes rs199602272
- ESP rs199602272
- ExAC rs199602272
- TOPMed rs199602272
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.08
- CADD 9.61
- PolyPhen-2 0.00
- SIFT 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available