D31H (p.Asp31His) variant of BCL2 (Apoptosis regulator Bcl-2)
D31H (p.Asp31His) 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.
D31H (p.Asp31His) variant details
- p.Asp31His
- cosmic curated COSV61373
- ExAC rs766508625
- TOPMed rs766508625
- gnomAD rs766508625
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.14
- MetaLR 0.03
- MetaSVM -1.03
- CADD 23.50
- PolyPhen-2 0.86
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available