R20G (p.Arg20Gly) variant of FBXW7 (Q969H0)
R20G (p.Arg20Gly) in FBXW7 (Q969H0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R20G (p.Arg20Gly) variant details
- p.Arg20Gly
- rs115679616
- ClinGen CA159656
- ClinVar RCV000121057
- ClinVar RCV006612226
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.30
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available