S259A (p.Ser259Ala) variant of RAF1 (P04049)
S259A (p.Ser259Ala) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
S259A (p.Ser259Ala) variant details
- p.Ser259Ala
- rs3730271
- ClinGen CA351512423
- cosmic curated COSV52586
- ClinVar RCV000599885
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- AlphaMissense 0.99
- MetaLR 0.64
- MetaSVM 0.40
- PolyPhen-2 0.20
- SIFT 0.00
- EVE 0.34
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in an ovarian serous carcinoma sample)
- UniProt: Pathogenic (in an ovarian serous carcinoma sample)
- Structural context available
- Cited in: A phosphatase holoenzyme comprised of Shoc2/Sur8 and the catalytic subunit of PP1 functions as an M-Ras effector to… (PMID 16630891)
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)