T47I (p.Thr47Ile) variant of BCL2L1 (Bcl-2-like protein 1)
T47I (p.Thr47Ile) in BCL2L1 (Bcl-2-like protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T47I (p.Thr47Ile) variant details
- p.Thr47Ile
- cosmic curated COSV10030
- Ensembl rs2122879305
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.05
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available