P48T (p.Pro48Thr) variant of BCL2L1 (Bcl-2-like protein 1)
P48T (p.Pro48Thr) 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, published literature, and structural context.
P48T (p.Pro48Thr) variant details
- p.Pro48Thr
- gnomAD 20-31722077-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.07
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.24
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available