A4P (p.Ala4Pro) variant of BCL2 (Apoptosis regulator Bcl-2)
A4P (p.Ala4Pro) 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 0.21 / 1. The record also includes population frequency data and structural context.
A4P (p.Ala4Pro) variant details
- p.Ala4Pro
- NCI-TCGA Cosmic COSV6137
- NCI-TCGA Cosmic COSV6138
- cosmic curated COSV61381
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -1.00
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.57
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available