A33V (p.Ala33Val) variant of BRAF (P15056)
A33V (p.Ala33Val) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Noonan syndrome and Noonan-related syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- rs2129153230
- ClinGen CA369590103
- ClinVar RCV001813636
- ClinVar RCV003426201
- Uncertain significance
- Noonan syndrome and Noonan-related syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- MetaLR 0.15
- MetaSVM -1.00
- CADD 15.40
- PolyPhen-2 0.14
- SIFT 0.45
- ClinVar: Uncertain significance (Noonan syndrome and Noonan-related syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.442