H53H (p.His53His) variant of PTPN11 (Q06124)
H53H (p.His53His) in PTPN11 (Q06124) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
H53H (p.His53His) variant details
- p.His53His
- rs766205831
- gnomAD 12-112450339-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 11.20
- SIFT 0.04
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Literature evidence available