P261T (p.Pro261Thr) variant of RAF1 (P04049)
P261T (p.Pro261Thr) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Noonan syndrome and Noonan-related syndrome; RASopathy; Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
P261T (p.Pro261Thr) variant details
- p.Pro261Thr
- rs121434594
- ClinGen CA250285
- cosmic curated COSV52576
- ClinVar RCV000037703
- Pathogenic/Likely pathogenic
- Noonan syndrome and Noonan-related syndrome; RASopathy; Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- AlphaMissense 0.99
- MetaLR 0.67
- MetaSVM 0.38
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome and Noonan-related syndrome; RASopathy; Noonan s)
- EBI: Pathogenic (in NS5)
- UniProt: Pathogenic (in NS5)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)