A2V (p.Ala2Val) variant of BCL2 (Apoptosis regulator Bcl-2)
A2V (p.Ala2Val) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs1273284492
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10038
- gnomAD rs1273284492
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.12
- MetaLR 0.08
- MetaSVM -1.09
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available