Q94R (p.Gln94Arg) variant of BRAF (P15056)
Q94R (p.Gln94Arg) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
Q94R (p.Gln94Arg) variant details
- p.Gln94Arg
- rs1562985576
- ClinGen CA369593885
- ClinVar RCV000779850
- ClinVar RCV006629207
- Uncertain significance
- not specified; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- MetaLR 0.30
- MetaSVM -0.49
- CADD 21.80
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (not specified; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available