N52S (p.Asn52Ser) variant of BCL2L1 (Bcl-2-like protein 1)
N52S (p.Asn52Ser) in BCL2L1 (Bcl-2-like protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
N52S (p.Asn52Ser) variant details
- p.Asn52Ser
- cosmic curated COSV10966
- TOPMed rs1187252281
- gnomAD rs1187252281
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.10
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available