A31T (p.Ala31Thr) variant of BRAF (P15056)
A31T (p.Ala31Thr) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- rs2129153255
- ClinGen CA369590117
- cosmic curated COSV56215
- ClinVar RCV002450056
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- MetaLR 0.18
- MetaSVM -0.97
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.17