N47S (p.Asn47Ser) variant of BCL2L11 (Bcl-2-like protein 11)
N47S (p.Asn47Ser) in BCL2L11 (Bcl-2-like protein 11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
N47S (p.Asn47Ser) variant details
- p.Asn47Ser
- rs199602272
- ClinGen CA1829291
- cosmic curated COSV58027
- ClinVar RCV004237665
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.25
- CADD 1.63
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available