S257L (p.Ser257Leu) variant of RAF1 (P04049)
S257L (p.Ser257Leu) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
S257L (p.Ser257Leu) variant details
- p.Ser257Leu
- rs80338796
- ClinGen CA235334
- NCI-TCGA Cosmic COSV5257
- cosmic curated COSV52574
- Pathogenic
- Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- AlphaMissense 0.97
- MetaLR 0.48
- MetaSVM 0.10
- PolyPhen-2 0.34
- SIFT 0.00
- EVE 0.42
- ClinVar: Pathogenic (Noonan syndrome)
- EBI: Pathogenic (in NS5 and LPRD2)
- UniProt: Pathogenic (in NS5 and LPRD2)
- Structural context available
- Cited in: Germline gain-of-function mutations in RAF1 cause Noonan syndrome. (PMID 17603482)
- Cited in: Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. (PMID 17603483)