P261A (p.Pro261Ala) variant of RAF1 (P04049)
P261A (p.Pro261Ala) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Noonan syndrome 5; LEOPARD syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
P261A (p.Pro261Ala) variant details
- p.Pro261Ala
- rs121434594
- ClinGen CA261626
- ClinVar RCV000208199
- ClinVar RCV000211848
- Pathogenic/Likely pathogenic
- not provided; Noonan syndrome 5; LEOPARD syndrome 2
- 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 (not provided; Noonan syndrome 5; LEOPARD syndrome 2)
- EBI: Pathogenic (in NS5)
- UniProt: Pathogenic (in NS5)
- Structural context available
- Cited in: Germline gain-of-function mutations in RAF1 cause Noonan syndrome. (PMID 17603482)
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)