N43Y (p.Asn43Tyr) variant of BCL2L11 (Bcl-2-like protein 11)
N43Y (p.Asn43Tyr) 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 0.41 / 1. The record also includes population frequency data and structural context.
N43Y (p.Asn43Tyr) variant details
- p.Asn43Tyr
- ExAC rs776156195
- TOPMed rs776156195
- gnomAD rs776156195
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.21
- CADD 32.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available