N18K (p.Asn18Lys) variant of PTPN11 (Q06124)
N18K (p.Asn18Lys) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
N18K (p.Asn18Lys) variant details
- p.Asn18Lys
- gnomAD 12-112446315-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.33
- MetaLR 0.21
- MetaSVM -0.73
- CADD 12.60
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available