N43D (p.Asn43Asp) variant of BCL2L11 (Bcl-2-like protein 11)
N43D (p.Asn43Asp) 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 0.34 / 1. The record also includes population frequency data and structural context.
N43D (p.Asn43Asp) variant details
- p.Asn43Asp
- rs776156195
- ClinGen CA1829289
- ClinVar RCV004178078
- ExAC rs776156195
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.11
- CADD 25.40
- PolyPhen-2 0.96
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.6e-05)
- Structural context available