P38Q (p.Pro38Gln) variant of BCL2L1 (Bcl-2-like protein 1)
P38Q (p.Pro38Gln) in BCL2L1 (Bcl-2-like protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
P38Q (p.Pro38Gln) variant details
- p.Pro38Gln
- gnomAD 20-31722105-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 30.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available