I61V (p.Ile61Val) variant of BRAF (P15056)
I61V (p.Ile61Val) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I61V (p.Ile61Val) variant details
- p.Ile61Val
- rs1265063696
- ClinGen CA369587919
- ClinVar RCV001035100
- TOPMed rs1265063696
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- MetaLR 0.36
- MetaSVM -0.43
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.018