I54K (p.Ile54Lys) variant of AGTRAP (Q6RW13)
I54K (p.Ile54Lys) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
I54K (p.Ile54Lys) variant details
- p.Ile54Lys
- gnomAD 1-11747538-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available