S58A (p.Ser58Ala) variant of PTPRC (P08575)
S58A (p.Ser58Ala) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S58A (p.Ser58Ala) variant details
- p.Ser58Ala
- gnomAD 1-198696783-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.09
- CADD 17.60
- PolyPhen-2 0.39
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available