P25L (p.Pro25Leu) variant of BRAF (P15056)
P25L (p.Pro25Leu) 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 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- rs2536967702
- ClinGen CA369590148
- ClinVar RCV003481867
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- MetaLR 0.21
- MetaSVM -0.86
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -1.25