R58Q (p.Arg58Gln) variant of BCL2L2 (Bcl-2-like protein 2)
R58Q (p.Arg58Gln) in BCL2L2 (Bcl-2-like protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R58Q (p.Arg58Gln) variant details
- p.Arg58Gln
- rs775649580
- ClinGen CA7112424
- cosmic curated COSV51636
- ClinVar RCV004348416
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.08
- CADD 24.30
- PolyPhen-2 0.04
- SIFT 0.31
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available