Y9C (p.Tyr9Cys) variant of BCL2 (Apoptosis regulator Bcl-2)
Y9C (p.Tyr9Cys) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Y9C (p.Tyr9Cys) variant details
- p.Tyr9Cys
- cosmic curated COSV10520
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.24
- MetaLR 0.05
- MetaSVM -1.17
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available