A38S (p.Ala38Ser) variant of BRAF (P15056)
A38S (p.Ala38Ser) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- rs1011563467
- ClinGen CA369590080
- ClinVar RCV003318973
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- MetaLR 0.16
- MetaSVM -0.95
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.001