T54K (p.Thr54Lys) variant of RAF1 (P04049)
T54K (p.Thr54Lys) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.43 / 1. The record also includes experimental measurements, published literature, and structural context.
T54K (p.Thr54Lys) variant details
- p.Thr54Lys
- rs754798801
- ClinGen CA351484946
- ClinVar RCV002204537
- ExAC rs754798801
- Uncertain significance
- Dilated cardiomyopathy 1NN; LEOPARD syndrome 2; Noonan syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- AlphaMissense 0.18
- MetaLR 0.28
- MetaSVM -0.68
- PolyPhen-2 0.84
- SIFT 0.45
- MutPred 0.28
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1NN; LEOPARD syndrome 2; Noonan syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.103
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)
- Cited in: Noonan Syndrome. (PMID 20301303)