A4T (p.Ala4Thr) variant of BCL2 (Apoptosis regulator Bcl-2)
A4T (p.Ala4Thr) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- cosmic curated COSV61371
- ExAC rs768498963
- gnomAD rs768498963
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -1.08
- CADD 22.70
- PolyPhen-2 0.41
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available