V46I (p.Val46Ile) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
V46I (p.Val46Ile) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V46I (p.Val46Ile) variant details
- p.Val46Ile
- rs766143912
- ClinGen CA2067065
- ClinVar RCV001761240
- ExAC rs766143912
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- MetaLR 0.26
- MetaSVM -0.69
- CADD 16.40
- PolyPhen-2 0.12
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available