T57I (p.Thr57Ile) variant of BRAF (P15056)
T57I (p.Thr57Ile) in BRAF (P15056) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T57I (p.Thr57Ile) variant details
- p.Thr57Ile
- cosmic curated COSV56172
- Ensembl rs1809008936
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- MetaLR 0.39
- MetaSVM -0.14
- CADD 24.00
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Uncertain significance (RASopathy)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0909