V263D (p.Val263Asp) variant of RAF1 (P04049)
V263D (p.Val263Asp) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Dilated cardiomyopathy 1NN; LEOPARD syndrome 2; Noonan syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
V263D (p.Val263Asp) variant details
- p.Val263Asp
- rs397516830
- ClinGen CA351512308
- cosmic curated COSV52575
- ClinVar RCV000586507
- Pathogenic/Likely pathogenic
- Dilated cardiomyopathy 1NN; LEOPARD syndrome 2; Noonan syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- AlphaMissense 0.98
- MetaLR 0.63
- MetaSVM 0.37
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (Dilated cardiomyopathy 1NN; LEOPARD syndrome 2; Noonan syndrome)
- EBI: Pathogenic (in NS5)
- UniProt: Pathogenic (in NS5)
- Structural context available
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)
- Cited in: Noonan Syndrome. (PMID 20301303)