P14R (p.Pro14Arg) variant of BRAF (P15056)
P14R (p.Pro14Arg) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P14R (p.Pro14Arg) variant details
- p.Pro14Arg
- rs397507455
- ClinGen CA281924
- ClinVar RCV000033266
- ClinVar RCV000654946
- Uncertain significance
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- MetaLR 0.16
- MetaSVM -0.98
- CADD 15.70
- PolyPhen-2 0.07
- SIFT 0.45
- ClinVar: Uncertain significance (not provided; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score 0.0102