T491I (p.Thr491Ile) variant of RAF1 (P04049)
T491I (p.Thr491Ile) 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 0.70 / 1. The record also includes published literature and structural context.
T491I (p.Thr491Ile) variant details
- p.Thr491Ile
- rs80338799
- ClinGen CA261612
- cosmic curated COSV50104
- ClinVar RCV000020507
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- AlphaMissense 1.00
- MetaLR 0.61
- MetaSVM 0.30
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in NS5)
- UniProt: Pathogenic (in NS5)
- Structural context available
- Cited in: Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. (PMID 17603483)
- Cited in: Noonan Syndrome. (PMID 20301303)