T54N (p.Thr54Asn) variant of PTPRC (P08575)
T54N (p.Thr54Asn) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
T54N (p.Thr54Asn) variant details
- p.Thr54Asn
- gnomAD rs1203601910
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.11
- CADD 18.90
- PolyPhen-2 0.43
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available