A38A (p.Ala38Ala) variant of BCL2 (Apoptosis regulator Bcl-2)
A38A (p.Ala38Ala) in BCL2 (Apoptosis regulator Bcl-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A38A (p.Ala38Ala) variant details
- p.Ala38Ala
- rs1169270253
- gnomAD 18-63318553-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 9.01
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available