V45L (p.Val45Leu) variant of PTPN11 (Q06124)
V45L (p.Val45Leu) in PTPN11 (Q06124) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
V45L (p.Val45Leu) variant details
- p.Val45Leu
- NCI-TCGA Cosmic COSV6100
- NCI-TCGA Cosmic COSV9908
- cosmic curated COSV99080
- Ensembl rs2037995352
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.74
- MetaLR 0.80
- MetaSVM 0.71
- CADD 26.90
- PolyPhen-2 0.51
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available