K70R (p.Lys70Arg) variant of PTPN11 (Q06124)
K70R (p.Lys70Arg) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K70R (p.Lys70Arg) variant details
- p.Lys70Arg
- rs397516801
- ClinGen CA261568
- ClinVar RCV000037634
- ClinVar RCV000206837
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.67
- MetaLR 0.69
- MetaSVM 0.40
- CADD 26.50
- PolyPhen-2 0.54
- SIFT 0.03
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)