L106V (p.Leu106Val) variant of CD7 (T-cell antigen CD7)
L106V (p.Leu106Val) 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 0.23 / 1. The record also includes population frequency data and structural context.
L106V (p.Leu106Val) variant details
- p.Leu106Val
- ExAC rs747444160
- TOPMed rs747444160
- gnomAD rs747444160
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.13
- CADD 3.46
- PolyPhen-2 0.33
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available