L40V (p.Leu40Val) variant of AGTRAP (Q6RW13)
L40V (p.Leu40Val) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L40V (p.Leu40Val) variant details
- p.Leu40Val
- gnomAD 1-11746158-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0899
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 0.04
- SIFT 0.68
- Population evidence available
- Structural context available
- Literature evidence available