L43F (p.Leu43Phe) variant of PTPN11 (Q06124)
L43F (p.Leu43Phe) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Metachondromatosis; LEOPARD syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
L43F (p.Leu43Phe) variant details
- p.Leu43Phe
- rs1566164987
- ClinGen CA386776360
- ClinVar RCV000680807
- ClinVar RCV000805888
- Conflicting interpretations
- not specified; Metachondromatosis; LEOPARD syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.07
- PolyPhen-2 0.95
- SIFT 0.01
- EVE 0.73
- ClinVar: Conflicting classifications of pathogenicity (not specified; Metachondromatosis; LEOPARD syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)