Q19K (p.Gln19Lys) variant of BCL2L1 (Bcl-2-like protein 1)
Q19K (p.Gln19Lys) in BCL2L1 (Bcl-2-like protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Q19K (p.Gln19Lys) variant details
- p.Gln19Lys
- gnomAD 20-31722164-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.26
- CADD 26.60
- PolyPhen-2 0.58
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available