N37K (p.Asn37Lys) variant of PTPN11 (Q06124)
N37K (p.Asn37Lys) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
N37K (p.Asn37Lys) variant details
- p.Asn37Lys
- gnomAD rs1337565783
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.35
- MetaLR 0.37
- MetaSVM -0.48
- CADD 18.60
- PolyPhen-2 0.12
- SIFT 0.04
- ClinVar: Uncertain significance (RASopathy)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available