G53V (p.Gly53Val) variant of BCL2L1 (Bcl-2-like protein 1)
G53V (p.Gly53Val) in BCL2L1 (Bcl-2-like protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G53V (p.Gly53Val) variant details
- p.Gly53Val
- gnomAD 20-31722061-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.25
- CADD 26.00
- PolyPhen-2 0.63
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available