Y28H (p.Tyr28His) variant of BCL2 (Apoptosis regulator Bcl-2)
Y28H (p.Tyr28His) 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 0.38 / 1. The record also includes population frequency data and structural context.
Y28H (p.Tyr28His) variant details
- p.Tyr28His
- rs1555711318
- NCI-TCGA Cosmic COSV6138
- cosmic curated COSV61382
- Ensembl rs1555711318
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.32
- MetaLR 0.04
- MetaSVM -1.15
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available