R12W (p.Arg12Trp) variant of BCL2 (Apoptosis regulator Bcl-2)
R12W (p.Arg12Trp) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R12W (p.Arg12Trp) variant details
- p.Arg12Trp
- cosmic curated COSV61392
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.44
- MetaLR 0.05
- MetaSVM -1.19
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available