P41L (p.Pro41Leu) variant of BRAF (P15056)
P41L (p.Pro41Leu) in BRAF (P15056) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P41L (p.Pro41Leu) variant details
- p.Pro41Leu
- gnomAD rs1186254108
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- MetaLR 0.25
- MetaSVM -0.73
- CADD 24.80
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (RASopathy)
- 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 -0.109