L10V (p.Leu10Val) variant of PTPRC (P08575)
L10V (p.Leu10Val) in PTPRC (P08575) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L10V (p.Leu10Val) variant details
- p.Leu10Val
- ExAC rs61757803
- TOPMed rs61757803
- gnomAD rs61757803
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.23
- CADD 14.30
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available