I54V (p.Ile54Val) variant of AGTRAP (Q6RW13)
I54V (p.Ile54Val) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
I54V (p.Ile54Val) variant details
- p.Ile54Val
- gnomAD 1-11747537-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 21.20
- PolyPhen-2 0.12
- SIFT 0.57
- Population evidence available
- Structural context available
- Literature evidence available