A48T (p.Ala48Thr) variant of BCL2L2 (Bcl-2-like protein 2)
A48T (p.Ala48Thr) in BCL2L2 (Bcl-2-like protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A48T (p.Ala48Thr) variant details
- p.Ala48Thr
- TOPMed rs1444977614
- gnomAD rs1444977614
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.08
- CADD 24.00
- PolyPhen-2 0.13
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available