P14L (p.Pro14Leu) variant of BRAF (P15056)
P14L (p.Pro14Leu) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- rs397507455
- ClinGen CA369590216
- ClinVar RCV001318070
- ClinVar RCV005432668
- Uncertain significance
- RASopathy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- MetaLR 0.16
- MetaSVM -0.92
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (RASopathy; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score 0.0102