I24L (p.Ile24Leu) variant of AGTRAP (Q6RW13)
I24L (p.Ile24Leu) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
I24L (p.Ile24Leu) variant details
- p.Ile24Leu
- gnomAD 1-11747447-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 7.20
- PolyPhen-2 0.00
- SIFT 0.94
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available