N5S (p.Asn5Ser) variant of BCL2L1 (Bcl-2-like protein 1)
N5S (p.Asn5Ser) in BCL2L1 (Bcl-2-like protein 1) 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, published literature, and structural context.
N5S (p.Asn5Ser) variant details
- p.Asn5Ser
- gnomAD 20-31722205-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.20
- MetaLR 0.03
- MetaSVM -1.16
- CADD 26.10
- PolyPhen-2 0.75
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available