N11S (p.Asn11Ser) variant of BCL2 (Apoptosis regulator Bcl-2)
N11S (p.Asn11Ser) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
N11S (p.Asn11Ser) variant details
- p.Asn11Ser
- ExAC rs769588208
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.22
- MetaLR 0.03
- MetaSVM -1.18
- CADD 22.60
- PolyPhen-2 0.97
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available