P30L (p.Pro30Leu) variant of RAF1 (P04049)
P30L (p.Pro30Leu) in RAF1 (P04049) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- gnomAD rs1179404518
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0667
- REVEL 0.03
- MetaLR 0.03
- MetaSVM -0.99
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.168