Y22C (p.Tyr22Cys) variant of BCL2L1 (Bcl-2-like protein 1)
Y22C (p.Tyr22Cys) in BCL2L1 (Bcl-2-like protein 1) 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 0.50 / 1. The record also includes population frequency data and structural context.
Y22C (p.Tyr22Cys) variant details
- p.Tyr22Cys
- TOPMed rs1296172344
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.38
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available