D13Y (p.Asp13Tyr) variant of BCL2L11 (Bcl-2-like protein 11)
D13Y (p.Asp13Tyr) in BCL2L11 (Bcl-2-like protein 11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and published literature.
D13Y (p.Asp13Tyr) variant details
- p.Asp13Tyr
- gnomAD 2-111123782-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.28
- MetaLR 0.19
- MetaSVM -0.73
- CADD 27.70
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.8e-05)
- Literature evidence available