R265L (p.Arg265Leu) variant of PTPN11 (Q06124)
R265L (p.Arg265Leu) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiovascular phenotype; Monogenic short statue; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
R265L (p.Arg265Leu) variant details
- p.Arg265Leu
- rs376607329
- ClinGen CA386788665
- ClinVar RCV000681121
- ClinVar RCV002422462
- Likely pathogenic
- Cardiovascular phenotype; Monogenic short statue; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.86
- MetaLR 0.98
- MetaSVM 1.10
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Likely pathogenic (Cardiovascular phenotype; Monogenic short statue; not provided)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available