A2T (p.Ala2Thr) variant of BCL2 (Apoptosis regulator Bcl-2)
A2T (p.Ala2Thr) in BCL2 (Apoptosis regulator Bcl-2) 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 and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- cosmic curated COSV61374
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.15
- MetaLR 0.10
- MetaSVM -1.04
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available