L10W (p.Leu10Trp) variant of PTPRC (P08575)
L10W (p.Leu10Trp) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L10W (p.Leu10Trp) variant details
- p.Leu10Trp
- gnomAD 1-198639297-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.29
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available