G200S (p.Gly200Ser) variant of E2F1 (Transcription factor E2F1)
G200S (p.Gly200Ser) in E2F1 (Transcription factor E2F1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of E2F1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data.
G200S (p.Gly200Ser) variant details
- p.Gly200Ser
- rs35385772
- ClinGen CA9818714
- ClinVar RCV003929794
- UniProt VAR 048907
- Benign
- E2F1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.0462
- REVEL 0.02
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 0.96
- ClinVar: Benign (E2F1-related disorder)
- EBI: Benign (in dbSNP:rs35385772)
- UniProt: Benign (in dbSNP:rs35385772)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.2)