A16A (p.Ala16Ala) variant of PTPN11 (Q06124)
A16A (p.Ala16Ala) in PTPN11 (Q06124) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A16A (p.Ala16Ala) variant details
- p.Ala16Ala
- rs372736227
- gnomAD 12-112446309-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.15
- CADD 9.73
- Most common in the REMAINING population (allele frequency 0.00075)
- Structural context available
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)
- Cited in: Mutations in PTPN11 are uncommon in adult myelodysplastic syndromes and acute myeloid leukaemia. (PMID 15009076)