N18S (p.Asn18Ser) variant of PTPN11 (Q06124)
N18S (p.Asn18Ser) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
N18S (p.Asn18Ser) variant details
- p.Asn18Ser
- rs587778635
- ClinGen CA161776
- ClinVar RCV000121911
- ClinVar RCV000261129
- Benign
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.30
- MetaLR 0.35
- MetaSVM -0.51
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Benign (RASopathy)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)
- Cited in: Noonan Syndrome. (PMID 20301303)