P48H (p.Pro48His) variant of BCL2L1 (Bcl-2-like protein 1)
P48H (p.Pro48His) in BCL2L1 (Bcl-2-like protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P48H (p.Pro48His) variant details
- p.Pro48His
- gnomAD 20-31722076-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.11
- CADD 23.10
- PolyPhen-2 0.38
- SIFT 0.08
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available