T258R (p.Thr258Arg) variant of RAF1 (P04049)
T258R (p.Thr258Arg) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of LEOPARD syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
T258R (p.Thr258Arg) variant details
- p.Thr258Arg
- rs1575573330
- ClinGen CA351512453
- ClinVar RCV000987118
- Ensembl rs1575573330
- Likely pathogenic
- LEOPARD syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- AlphaMissense 0.99
- MetaLR 0.59
- MetaSVM 0.22
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.30
- ClinVar: Likely pathogenic (LEOPARD syndrome 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)