L43V (p.Leu43Val) variant of PTPN11 (Q06124)
L43V (p.Leu43Val) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Metachondromatosis; Juvenile myelomonocytic leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
L43V (p.Leu43Val) variant details
- p.Leu43Val
- rs1566164987
- ClinGen CA386776359
- ClinVar RCV001829267
- ClinVar RCV002503336
- Uncertain significance
- Cardiovascular phenotype; Metachondromatosis; Juvenile myelomonocytic leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.82
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.07
- CADD 24.80
- PolyPhen-2 0.95
- ClinVar: Uncertain significance (Cardiovascular phenotype; Metachondromatosis; Juvenile myelomono)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- 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)