N20T (p.Asn20Thr) variant of BRAF (P15056)
N20T (p.Asn20Thr) 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 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N20T (p.Asn20Thr) variant details
- p.Asn20Thr
- rs781085650
- ClinGen CA369590179
- ClinVar RCV003278239
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- MetaLR 0.21
- MetaSVM -0.91
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0152