D40Y (p.Asp40Tyr) variant of BCL2L2 (Bcl-2-like protein 2)
D40Y (p.Asp40Tyr) in BCL2L2 (Bcl-2-like protein 2) 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.
D40Y (p.Asp40Tyr) variant details
- p.Asp40Tyr
- gnomAD 14-23307885-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.06
- CADD 23.80
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available