I46V (p.Ile46Val) variant of CD7 (T-cell antigen CD7)
I46V (p.Ile46Val) in CD7 (T-cell antigen CD7) is a missense change. Clinical records from ClinVar, EBI, 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 0.39 / 1. The record also includes population frequency data and structural context.
I46V (p.Ile46Val) variant details
- p.Ile46Val
- rs146449655
- ClinGen CA8856049
- ClinVar RCV004124583
- ESP rs146449655
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.37
- CADD 22.60
- PolyPhen-2 0.91
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available