P40T (p.Pro40Thr) variant of BCL2 (Apoptosis regulator Bcl-2)
P40T (p.Pro40Thr) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P40T (p.Pro40Thr) variant details
- p.Pro40Thr
- gnomAD 18-63318549-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.07
- MetaLR 0.01
- MetaSVM -0.97
- CADD 15.70
- PolyPhen-2 0.02
- SIFT 0.13
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Literature evidence available