A34V (p.Ala34Val) variant of BRAF (P15056)
A34V (p.Ala34Val) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- rs1424449802
- ClinGen CA369590099
- ClinVar RCV000824931
- TOPMed rs1424449802
- Likely benign
- Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- MetaLR 0.16
- MetaSVM -0.74
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Likely benign (Noonan syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.04
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)