L12I (p.Leu12Ile) variant of HLA-A (P04439)
L12I (p.Leu12Ile) in HLA-A (P04439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L12I (p.Leu12Ile) variant details
- p.Leu12Ile
- gnomAD 6-29942587-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.12
- CADD 22.40
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available