H53Y (p.His53Tyr) variant of PTPN11 (Q06124)
H53Y (p.His53Tyr) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
H53Y (p.His53Tyr) variant details
- p.His53Tyr
- Ensembl rs2135861929
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.95
- MetaLR 0.98
- MetaSVM 1.02
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available