P491A (p.Pro491Ala) variant of PTPN11 (Q06124)
P491A (p.Pro491Ala) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Astrocytic tumor; Noonan syndrome and Noonan-related syndrome; Juvenile myelomon. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P491A (p.Pro491Ala) variant details
- p.Pro491Ala
- rs397507539
- ClinGen CA297097
- ClinVar RCV000159056
- ClinVar RCV001002766
- Pathogenic/Likely pathogenic
- Astrocytic tumor; Noonan syndrome and Noonan-related syndrome; Juvenile myelomon
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.61
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Pathogenic/Likely pathogenic (Astrocytic tumor; Noonan syndrome and Noonan-related syndrome; J)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)