A27T (p.Ala27Thr) variant of BRAF (P15056)
A27T (p.Ala27Thr) 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 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- rs1247014863
- ClinGen CA369590141
- cosmic curated COSV56150
- ClinVar RCV001919688
- Uncertain significance
- not specified; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- MetaLR 0.26
- MetaSVM -0.71
- CADD 23.50
- PolyPhen-2 0.07
- SIFT 0.07
- 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
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.148