L12P (p.Leu12Pro) variant of CD7 (T-cell antigen CD7)
L12P (p.Leu12Pro) in CD7 (T-cell antigen CD7) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- ExAC rs770256884
- gnomAD rs770256884
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.18
- CADD 20.90
- PolyPhen-2 0.80
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.4e-06)
- Structural context available