W30C (p.Trp30Cys) variant of BCL2 (Apoptosis regulator Bcl-2)
W30C (p.Trp30Cys) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
W30C (p.Trp30Cys) variant details
- p.Trp30Cys
- cosmic curated COSV61376
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.28
- MetaLR 0.03
- MetaSVM -1.09
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available