D18A (p.Asp18Ala) variant of PTPRC (P08575)
D18A (p.Asp18Ala) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
D18A (p.Asp18Ala) variant details
- p.Asp18Ala
- gnomAD 1-198639321-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.16
- CADD 25.80
- PolyPhen-2 0.85
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available