E71D (p.Glu71Asp) variant of BRAF (P15056)
E71D (p.Glu71Asp) in BRAF (P15056) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E71D (p.Glu71Asp) variant details
- p.Glu71Asp
- Ensembl rs1562994456
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- MetaLR 0.19
- MetaSVM -0.81
- CADD 17.30
- PolyPhen-2 0.02
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score 0.0052