T47N (p.Thr47Asn) variant of BCL2L1 (Bcl-2-like protein 1)
T47N (p.Thr47Asn) in BCL2L1 (Bcl-2-like protein 1) 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, published literature, and structural context.
T47N (p.Thr47Asn) variant details
- p.Thr47Asn
- gnomAD 20-31722079-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.03
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available