N43S (p.Asn43Ser) variant of BCL2L11 (Bcl-2-like protein 11)
N43S (p.Asn43Ser) in BCL2L11 (Bcl-2-like protein 11) is a missense change. 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.
N43S (p.Asn43Ser) variant details
- p.Asn43Ser
- ExAC rs775928756
- gnomAD rs775928756
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.12
- CADD 24.30
- PolyPhen-2 0.94
- SIFT 0.28
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available