A102T (p.Ala102Thr) variant of E2F1 (Transcription factor E2F1)
A102T (p.Ala102Thr) in E2F1 (Transcription factor E2F1) 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 0.36 / 1. The record also includes population frequency data.
A102T (p.Ala102Thr) variant details
- p.Ala102Thr
- rs145741678
- ClinGen CA9818795
- ClinVar RCV000967798
- ClinVar RCV003936053
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.08
- CADD 22.10
- PolyPhen-2 0.37
- SIFT 0.13
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:PATHAN population (allele frequency 0.042)