P30S (p.Pro30Ser) variant of RAF1 (P04049)
P30S (p.Pro30Ser) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- rs765857063
- ClinGen CA2259840
- ClinVar RCV002047618
- ClinVar RCV004988790
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.0629
- REVEL 0.01
- MetaLR 0.02
- MetaSVM -1.02
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.58
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.168